2,162 results match your criteria Homocystinuria


Enrichment of pathogenic variants in genes associated with inborn errors of metabolism in psychiatric populations.

Am J Med Genet B Neuropsychiatr Genet 2018 Dec 16. Epub 2018 Dec 16.

Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.

Many genetic conditions can mimic mental health disorders, with psychiatric symptoms that are difficult to treat with standard psychotropic medications. This study tests the hypothesis that psychiatric populations are enriched for pathogenic variants associated with selected inborn errors of metabolism (IEMs). Using next-generation sequencing, 2046 psychiatric patients were screened for pathogenic variants in genes associated with four IEMs, Niemann-Pick disease type C (NPC), Wilson disease (WD), homocystinuria (HOM), and acute intermittent porphyria (AIP). Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.b.32702
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http://dx.doi.org/10.1002/ajmg.b.32702DOI Listing
December 2018
1 Read

First report of homocystinuria-megaloblastic anaemia, cobalamin E complementation type, in an Indian child.

Pathology 2018 Nov 19. Epub 2018 Nov 19.

Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00313025183025
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http://dx.doi.org/10.1016/j.pathol.2018.07.008DOI Listing
November 2018
2 Reads
2.188 Impact Factor

In silico and in vivo models for Qatari-specific classical homocystinuria as basis for development of novel therapies.

Hum Mutat 2018 Nov 8. Epub 2018 Nov 8.

Department of Biomedical Sciences, College of Health Sciences, Qatar University, Doha, Qatar.

Homocystinuria is a rare inborn error of methionine metabolism caused by cystathionine β-synthase (CBS) deficiency. The prevalence of homocystinuria in Qatar is 1:1,800 births, mainly due to a founder Qatari missense mutation, c.1006C>T; p. Read More

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http://doi.wiley.com/10.1002/humu.23682
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http://dx.doi.org/10.1002/humu.23682DOI Listing
November 2018
3 Reads
5.140 Impact Factor

Cytokines levels in late-diagnosed Classical Homocystinuria patients.

Mol Genet Metab Rep 2018 Dec 28;17:43-44. Epub 2018 Sep 28.

Post-Graduation Program in Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

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https://linkinghub.elsevier.com/retrieve/pii/S22144269183010
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http://dx.doi.org/10.1016/j.ymgmr.2018.09.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169425PMC
December 2018
1 Read

Reversible Cerebral White Matter Abnormalities in Homocystinuria.

JIMD Rep 2018 Sep 6. Epub 2018 Sep 6.

Department of Paediatric Neurosciences, St George's University Hospitals NHS Foundation Trust, London, UK.

Striking MRI brain changes resembling leukoencephalopathy are rarely seen in classical homocystinuria. Our case suggests that reversible white matter changes (WMC) are linked to elevated plasma methionine levels arising during treatment.A 6-year-old boy with learning difficulties and a normal MRI brain scan was diagnosed with homocystinuria (initial total homocysteine 344 μmol/L and methionine 64 μmol/L). Read More

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http://link.springer.com/10.1007/8904_2018_135
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http://dx.doi.org/10.1007/8904_2018_135DOI Listing
September 2018
3 Reads

Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria.

BMC Med Genet 2018 Aug 29;19(1):154. Epub 2018 Aug 29.

The Center for Genetics and Prenatal Diagnosis, The First Affiliated Hospital of Zhengzhou University, Jianshe Road, Zhengzhou, 450052, China.

Background: We sought to analyse MMACHC variants among 126 pedigrees with cobalamin (cbl) C deficiency and combined methylmalonic aciduria and homocystinuria by Sanger sequencing, characterize the spectrum of MMACHC gene variants, and perform prenatal genetic diagnosis by chorionic villus sampling among these pedigrees.

Methods: Peripheral blood was collected from 126 probands and their parents who visited the Genetic Counseling Clinic at our hospital between January 2014 and December 2017, and DNA was extracted from the blood. Then, we amplified the coding sequence and splicing regions of the MMACHC gene by PCR, and the PCR products were further sequenced to detect the variants in each pedigree. Read More

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http://dx.doi.org/10.1186/s12881-018-0666-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6116561PMC
August 2018
1 Read

The Effects of Homocysteine on the Skeleton.

Curr Osteoporos Rep 2018 Oct;16(5):554-560

Department of Orthopaedic Surgery, Jikei University School of Medicine, 3-25-8 Nishi-Shinbashi, Minato-ku, Tokyo, 105-8461, Japan.

Purpose Of Review: Homocystinuria is a congenital metabolic disorder in which cystathionine β-synthase deficiency results in a prominent increase in homocysteine (serum levels > 100 μM), causing mental retardation, atherosclerotic cerebral infarction, and osteoporosis accompanied by fragility fractures. Encountering a case with excessive homocysteinemia such as that seen in hereditary homocystinuria is unlikely during usual medical examinations. However, in individuals who have vitamin B or folate deficiency, serum homocysteine concentrations are known to increase. Read More

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http://dx.doi.org/10.1007/s11914-018-0469-1DOI Listing
October 2018
13 Reads

Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report.

Ital J Pediatr 2018 Aug 13;44(1):90. Epub 2018 Aug 13.

Department of Health Sciences, University of Florence, Anna Meyer Children's University Hospital, 50139, Florence, Italy.

Background: Cobalamin C (cblC) defect is the most common inborn error of Vitamin B12 metabolism often causing severe neurological, renal, gastrointestinal and hematological symptoms. Onset with pulmonary hypertension (PAH) and atypical hemolytic-uremic syndrome (aHUS) is rare.

Case Presentation: We describe the case of a 2-years old child, previously in good health, admitted to the hospital with severe respiratory symptoms, rapid worsening of clinical conditions, O desaturation and palmo-plantar edema. Read More

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http://dx.doi.org/10.1186/s13052-018-0530-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205155PMC
August 2018
4 Reads

Cobalamin D Deficiency Identified Through Newborn Screening.

JIMD Rep 2018 Aug 11. Epub 2018 Aug 11.

Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.

Cobalamin D deficiency (cblD) is one of the least common cobalamin metabolism disorders. It may result in isolated homocystinuria, isolated methylmalonic aciduria, or combined methylmalonic aciduria and homocystinuria (cblD-combined). Only seven cases of the combined cblD form have been reported to date. Read More

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http://dx.doi.org/10.1007/8904_2018_126DOI Listing
August 2018
2 Reads

Cystathionine -Synthase in Physiology and Cancer.

Biomed Res Int 2018 28;2018:3205125. Epub 2018 Jun 28.

Division of Research, Peter MacCallum Cancer Centre, 305 Grattan Street, Melbourne, Victoria 3000, Australia.

Cystathionine -synthase (CBS) regulates homocysteine metabolism and contributes to hydrogen sulfide (HS) biosynthesis through which it plays multifunctional roles in the regulation of cellular energetics, redox status, DNA methylation, and protein modification. Inactivating mutations in CBS contribute to the pathogenesis of the autosomal recessive disease CBS-deficient homocystinuria. Recent studies demonstrating that CBS promotes colon and ovarian cancer growth in preclinical models highlight a newly identified oncogenic role for CBS. Read More

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http://dx.doi.org/10.1155/2018/3205125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6046153PMC
June 2018
1 Read

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.

Orphanet J Rare Dis 2018 Jul 24;13(1):125. Epub 2018 Jul 24.

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular, Universidad Autónoma de Madrid, CIBERER, IdiPAZ, Madrid, Spain.

Background: Cellular cobalamin defects are a locus and allelic heterogeneous disorder. The gold standard for coming to genetic diagnoses of cobalamin defects has for some time been gene-by-gene Sanger sequencing of individual DNA fragments. Enzymatic and cellular methods are employed before such sequencing to help in the selection of the gene defects to be sought, but this is time-consuming and laborious. Read More

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http://dx.doi.org/10.1186/s13023-018-0862-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057060PMC
July 2018
3 Reads

Mouse modeling and structural analysis of the p.G307S mutation in human cystathionine β-synthase () reveal effects on CBS activity but not stability.

J Biol Chem 2018 Sep 20;293(36):13921-13931. Epub 2018 Jul 20.

From the Cancer Biology Program, Fox Chase Cancer Center, Philadelphia, Pennsylvania 19111 and

Mutations in the cystathionine β-synthase () gene are the cause of classical homocystinuria, the most common inborn error in sulfur metabolism. The p.G307S mutation is the most frequent cause of CBS deficiency in Ireland, which has the highest prevalence of CBS deficiency in Europe. Read More

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http://dx.doi.org/10.1074/jbc.RA118.002164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6130948PMC
September 2018
2 Reads

Classic homocystinuria and keratoconus: a case report.

Arq Bras Oftalmol 2018 Jul-Aug;81(4):336-338

Ophthalmology and Otolaryngology Department, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.

Homocystinuria is one of a group of genetic disorders called inborn errors of metabolism. It is characterized by a deficiency of the enzyme that converts homocysteine to cystathionine. Keratoconus is an ophthalmologic condition characterized by thinning of the corneal stroma, which causes the cornea to assume a conical shape. Read More

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http://dx.doi.org/10.5935/0004-2749.20180065DOI Listing
October 2018
10 Reads

Regressive pyridoxine-induced sensory neuronopathy in a patient with homocystinuria.

BMJ Case Rep 2018 Jun 28;2018. Epub 2018 Jun 28.

Neurologie, Hopitaux universitaires de Strasbourg, Strasbourg, France.

Pyridoxine (vitamin B6) is an essential vitamin playing a crucial role in amino acid metabolism. Pyridoxine is used for isoniazid side-effects prevention, pyridoxine-dependent epilepsy treatment and cystathionine beta-synthase deficiency (homocystinuria) treatment. However, vitamin B6 hypervitaminosis is neurotoxic and may provoke a progressive sensory neuronopathy (sensory ganglionopathy), usually when daily uptake is above 50 mg. Read More

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2018-22505
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http://dx.doi.org/10.1136/bcr-2018-225059DOI Listing
June 2018
6 Reads

Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.

Mol Genet Metab Rep 2018 Sep 21;16:5-10. Epub 2018 May 21.

Department of Pediatrics, Shimane University Faculty of Medicine, 89-1, Enya-cho, Izumo, Shimane 693-8501, Japan.

Background: Expanded newborn screening (ENBS) utilizing tandem mass spectrometry (MS/MS) for inborn metabolic diseases (IMDs), such as organic acidemias (OAs), fatty acid oxidation disorders, (FAODs), and amino acid disorders (AAs), is increasingly popular but has not yet been introduced in many Asian countries. This study aimed to determine the incidence rates of OAs, FAODs, and AAs in Asian countries and Germany using selective screening and ENBS records.

Materials And Methods: Selective screening for IMDs using gas chromatography-mass spectrometry and MS/MS was performed among patients suspected to be afflicted in Asian countries (including Japan, Vietnam, China, and India) between 2000 and 2015, and the results from different countries were compared. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22144269183003
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http://dx.doi.org/10.1016/j.ymgmr.2018.05.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014585PMC
September 2018
14 Reads

Newborn screening for homocystinurias: recent recommendations versus current practice.

J Inherit Metab Dis 2018 Jun 15. Epub 2018 Jun 15.

Austrian Newborn Screening, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.

Purpose: To assess how the current practice of newborn screening (NBS) for homocystinurias compares with published recommendations.

Methods: Twenty-two of 32 NBS programmes from 18 countries screened for at least one form of homocystinuria. Centres provided pseudonymised NBS data from patients with cystathionine beta-synthase deficiency (CBSD, n = 19), methionine adenosyltransferase I/III deficiency (MATI/IIID, n = 28), combined remethylation disorder (cRMD, n = 56) and isolated remethylation disorder (iRMD), including methylenetetrahydrofolate reductase deficiency (MTHFRD) (n = 8). Read More

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http://dx.doi.org/10.1007/s10545-018-0213-0DOI Listing

Homocystinuria presenting as a calcified right atrial mass.

Ann Pediatr Cardiol 2018 May-Aug;11(2):214-216

Department of Radiodiagnosis and Imaging, Sher-I-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India.

Homocystinuria is a genetic inborn error of metabolism due to the deficiency of cystathionine β-synthase resulting in increased serum homocysteine and methionine and decreased cysteine which predisposes affected individuals to arterial and venous thromboembolic phenomena. We present a case of homocystinuria who presented to us as a calcified right atrial mass during the evaluation for lower respiratory tract infection. Our case reveals an unusual mix of findings using imaging with multiple detector computed tomography and radiographs. Read More

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http://dx.doi.org/10.4103/apc.APC_174_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5963241PMC

Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria.

J Radiol Case Rep 2018 Jan 31;12(1):1-8. Epub 2018 Jan 31.

Department of Radiology, Rady Children's Hospital-San Diego, San Diego, USA.

Homocystinuria is an inherited metabolic disorder most commonly caused by cystathionine β-synthase deficiency. Severe cases can cause white matter abnormalities that can mimic other vascular, toxic and metabolic disorders on computed tomography and magnetic resonance imaging. We present such a case which demonstrates not only extensive white matter abnormalities on magnetic resonance imaging, but also previously unreported basal ganglia signal abnormalities and imaging manifestations of increased intracranial pressure, likely caused by elevated methionine and betaine therapy. Read More

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http://dx.doi.org/10.3941/jrcr.v12i1.3207DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5965393PMC
January 2018
6 Reads

Methylmalonic acidemia: Current status and research priorities.

Intractable Rare Dis Res 2018 May;7(2):73-78

Shandong Academy of Medical Science, Shandong Medical Biotechnological Center, Key Laboratory for Biotech Drugs of the Ministry of Health, Ji'nan, China.

Methylmalonic acidemia (MMA) is a lethal, severe heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism with poor prognosis. Two main forms of the disease have been identified, isolated methylmalonic acidurias and combined methylmalonic aciduria and homocystinuria, which is respectively caused by different gene mutations. Here, we review the improvement of pathogenesis, diagnosis and treatment in MMA. Read More

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http://dx.doi.org/10.5582/irdr.2018.01026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5982627PMC

Prevalence of factor V leiden, MTHFR C677T and MTHFR A1298C polymorphisms in patients with deep vein thrombosis in Central Iran.

Mol Biol Rep 2018 Aug 31;45(4):621-624. Epub 2018 May 31.

Social Determinants of Health (SDH) Research Center, Kashan University of Medical Sciences, Kashan, Islamic Republic of Iran.

Deep vein thrombosis (DVT) is a common disease, especially among elderly patients, which is associated with high costs of treatment and high rates of recurrence. The risk factors for venous thrombosis are primarily related to hypercoagulability, which can be genetic or acquired, or because of immobilization and venous stasis. Among relevant genetic markers are a number of common polymorphisms and mutations in the genes coding for Factor V leiden and methylenetetrahydrofolate reductase. Read More

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http://dx.doi.org/10.1007/s11033-018-4201-0DOI Listing
August 2018
3 Reads

Classical Homocystinuria in a Juvenile Patient.

J Coll Physicians Surg Pak 2018 Jun;28(6):488-489

Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology (AFIP), Rawalpindi.

Classical homocystinuria, also known as cystathionine beta synthase deficiency, is a rare disorder of methionine metabolism, leading to an abnormal accumulation of homocysteine and its metabolites in blood and urine. A young child with homocystinuria is discussed, who presented with behavioral abnormalities, involuntary movement, mental retardation, and decreased vision since birth. The diagnosis of homocystinuria was not made at initial presentation. Read More

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http://dx.doi.org/10.29271/jcpsp.2018.06.488DOI Listing
June 2018
2 Reads
0.320 Impact Factor

Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria.

Oxid Med Cell Longev 2018 20;2018:1246069. Epub 2018 Mar 20.

Centro de Biología Molecular Severo Ochoa UAM-CSIC, Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), CIBERER, IdiPaz, Universidad Autónoma de Madrid, Madrid, Spain.

Inborn errors of metabolism (IEMs) are a group of monogenic disorders characterized by dysregulation of the metabolic networks that underlie development and homeostasis. Emerging evidence points to oxidative stress and mitochondrial dysfunction as major contributors to the multiorgan alterations observed in several IEMs. The accumulation of toxic metabolites in organic acidurias, respiratory chain, and fatty acid oxidation disorders inhibits mitochondrial enzymes and processes resulting in elevated levels of reactive oxygen species (ROS). Read More

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http://dx.doi.org/10.1155/2018/1246069DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5884027PMC
October 2018
5 Reads

Transcellular transport of cobalamin in aortic endothelial cells.

FASEB J 2018 Oct 9;32(10):5506-5519. Epub 2018 May 9.

Department of Cellular and Molecular Medicine, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA.

Cobalamin [Cbl (or B)] deficiency causes megaloblastic anemia and a variety of neuropathies. However, homeostatic mechanisms of cyanocobalamin (CNCbl) and other Cbls by vascular endothelial cells are poorly understood. Herein, we describe our investigation into whether cultured bovine aortic endothelial cells (BAECs) perform transcytosis of B, namely, the complex formed between serum transcobalamin and B, designated as holo-transcobalamin (holo-TC). Read More

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http://dx.doi.org/10.1096/fj.201701141RRDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133706PMC
October 2018
2 Reads

Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population.

Front Genet 2018 20;9:122. Epub 2018 Apr 20.

Collaborative Innovation Center for Birth Defect Research and Transformation of Shandong Province, Jining Medical University, Jining, China.

The incidence of inborn errors of metabolisms (IEMs) varies dramatically in different countries and regions. Expanded newborn screening for IEMs by tandem mass spectrometry (MS/MS) is an efficient approach for early diagnosis and presymptomatic treatment to prevent severe permanent sequelae and death. To determine the characteristics of IEMs and IEMs-associated mutations in newborns in Jining area, China, 48,297 healthy neonates were recruited for expanded newborn screening by MS/MS. Read More

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http://dx.doi.org/10.3389/fgene.2018.00122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5920142PMC
April 2018
1 Read

Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.

Sci Rep 2018 Mar 26;8(1):5214. Epub 2018 Mar 26.

Pediatric Intensive Care Unit, Anhui Provincial Children's Hospital, Hefei, 230029, P.R. China.

Neurodevelopmental delay accompanied unexplained dyspnea is a highly lethal disease in clinic. This study is to investigate the performance characteristics of trio whole exome sequencing (Trio-WES) in a pediatric setting by presenting our patient cohort and displaying the diagnostic yield. A total of 31 pediatric patients showing neurodevelopmental delay accompanied unexplained dyspnea were admitted to our hospital and referred for molecular genetic testing using Trio-WES. Read More

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http://dx.doi.org/10.1038/s41598-018-23503-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5980106PMC
March 2018
7 Reads

Homocysteine and Hyperhomocysteinaemia.

Curr Med Chem 2018 Mar 12. Epub 2018 Mar 12.

Institute of nuclear science Vinca, University of Belgrade, Laboratory of Radiobiology and Molecular Genetics, Belgrade. Serbia.

Homocysteine (Hcy) is thiol group containing the amino acid, which naturally occurs in all humans. Hcy is degraded in the body through two metabolic pathways, while a minor part is excreted through kidneys. The chemical reactions that are necessary for degradation of Hcy require the presence of the folic acid, vitamins B6 and B12. Read More

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http://dx.doi.org/10.2174/0929867325666180313105949DOI Listing
March 2018
10 Reads

Pharmacokinetics and pharmacodynamics of PEGylated truncated human cystathionine beta-synthase for treatment of homocystinuria.

Life Sci 2018 May 9;200:15-25. Epub 2018 Mar 9.

Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA. Electronic address:

Aims: PEGylated human truncated cystathionine beta-synthase, lacking the C-terminal regulatory domain (PEG-CBS), is a promising preclinical candidate for enzyme replacement therapy in homocystinuria (HCU). It was designed to function as a metabolic sink to decrease the severely elevated plasma and tissue homocysteine concentrations. In this communication, we evaluated pharmacokinetics (PK), pharmacodynamics (PD) and sub-chronic toxicity of PEG-CBS in homocystinuric mice, wild type rats and monkeys to estimate the minimum human efficacious dose for clinical trials. Read More

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http://dx.doi.org/10.1016/j.lfs.2018.03.018DOI Listing

Case 7-2018: A 25-Year-Old Man with New-Onset Seizures.

N Engl J Med 2018 Mar;378(10):941-948

From the Departments of Neurology (E.C.C.), Radiology (S.Y.H.), Genetics (A.K.), and Pathology (M.W.R.), Massachusetts General Hospital, and the Departments of Neurology (E.C.C.), Radiology (S.Y.H.), Genetics (A.K.), and Pathology (M.W.R.), Harvard Medical School - both in Boston.

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http://dx.doi.org/10.1056/NEJMcpc1712226DOI Listing
March 2018
2 Reads

Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria.

World J Pediatr 2018 04 5;14(2):197-203. Epub 2018 Mar 5.

Department of Pediatrics, Peking University First Hospital, No. 1 Xi'anmen Street, West District, Beijing, 100034, China.

Background: Classical homocystinuria (homocysteinemia type 1, MIM# 236200) is a rare inherited disorder in Mainland China. This study aimed to identify mutations in the cystathionine β-synthase (CBS) gene which are associated with classical homocystinuria in nine Chinese patients.

Methods: Nine Chinese patients were diagnosed at the age of 5 years 4 months to 18 years by plasma total homocysteine and blood methionine determination. Read More

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http://dx.doi.org/10.1007/s12519-018-0135-9DOI Listing
April 2018
23 Reads

Inborn Errors of Metabolism with Cognitive Impairment: Metabolism Defects of Phenylalanine, Homocysteine and Methionine, Purine and Pyrimidine, and Creatine.

Pediatr Clin North Am 2018 04;65(2):267-277

Division of Medical Genetics, Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh, UPMC, 4401 Penn Avenue, Pittsburgh, PA 15224, USA. Electronic address:

Phenylketonuria is a defect in phenylalanine metabolism resulting in the excretion of phenylketones and severe intellectual disability. The principle of eliminating the offending amino acid from the diet as a successful treatment strategy was demonstrated. The development of a low methionine diet to treat homocystinuria was established after identifying the transsulfuration pathway resulting in cysteine synthesis. Read More

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http://dx.doi.org/10.1016/j.pcl.2017.11.009DOI Listing
April 2018
5 Reads

Poorly Controlled Homocystinuria: A Rare Cause of Ischemic Priapism?

Sex Med 2018 Jun 17;6(2):171-173. Epub 2018 Feb 17.

Andrology Department, University College London Hospital, London, UK.

We report on the 1st case of ischemic priapism secondary to poorly controlled homocystinuria. Homocystinuria is a rare, autosomal recessive, inherited disorder of metabolism that is caused by a deficiency of cystathionine synthase, leading to marked hyperhomocysteinemia. Arterial and/or venous thromboemboli are a major cause of mortality and morbidity in patients with homocystinuria. Read More

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http://dx.doi.org/10.1016/j.esxm.2017.12.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5960025PMC
June 2018
12 Reads

Is homocystinuria a real challenge for anesthetist? Are we making a difference?

Saudi J Anaesth 2018 Jan-Mar;12(1):172-173

Department of Anaesthesiology, The Aga Khan University Hospital, Karachi, Pakistan.

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http://dx.doi.org/10.4103/sja.SJA_274_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5789499PMC
February 2018

Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria.

Mol Ther 2018 Mar 19;26(3):834-844. Epub 2017 Dec 19.

Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA. Electronic address:

Classical homocystinuria (HCU) is the most common inherited disorder of sulfur amino acid metabolism caused by deficiency in cystathionine beta-synthase (CBS) activity and characterized by severe elevation of homocysteine in blood and tissues. Treatment with dietary methionine restriction is not optimal, and poor compliance leads to serious complications. We developed an enzyme replacement therapy (ERT) and studied its efficacy in a severe form of HCU in mouse (the I278T model). Read More

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http://dx.doi.org/10.1016/j.ymthe.2017.12.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5910661PMC
March 2018
3 Reads

Late-onset cobalamin C deficiency Chinese sibling patients with neuropsychiatric presentations.

Metab Brain Dis 2018 06 26;33(3):829-835. Epub 2018 Jan 26.

Department of Neurology, Qilu Hospital, Shandong University, 107#,Wen Hua Xi Road, Ji'nan, 250012, People's Republic of China.

The Cobalamin C deficiency (cblC), characterized with elevated methylmalonic acidemia and homocystinuria in plasma, is an inborn error of cobalamin metabolism. The late-onset cblC siblings patients were rarely reported. In this study, we analyzed the clinical presentations and treatment outcomes of late-onset cblC in Chinese sibling patients with neuropsychiatric presentations. Read More

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http://dx.doi.org/10.1007/s11011-018-0189-3DOI Listing
June 2018
3 Reads

Focal epilepsy as the revealing symptom of 5,10-methylenetetrahydrofolate reductase deficiency in a young adult.

Rev Neurol (Paris) 2018 Mar 1;174(3):173-175. Epub 2018 Feb 1.

Unité d'épileptologie, département de neurologie, université Pierre-et-Marie-Curie Paris-VI, groupe hospitalier Pitié-Salpétrière, Assistance publique-Hopitaux de Paris (AP-HP), 47, boulevard de l'Hôpital, 75013 Paris, France.

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https://linkinghub.elsevier.com/retrieve/pii/S00353787163035
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http://dx.doi.org/10.1016/j.neurol.2017.06.028DOI Listing
March 2018
13 Reads

CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.

Mol Genet Genomic Med 2018 03 20;6(2):160-170. Epub 2018 Jan 20.

Post-Graduation Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

Background: Classical homocystinuria (HCU) is a monogenic disease caused by the deficient activity of cystathionine β-synthase (CβS). The objective of this study was to identify the CBS mutations in Brazilian patients with HCU.

Methods: gDNA samples were obtained for 35 patients (30 families) with biochemically confirmed diagnosis of HCU. Read More

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http://dx.doi.org/10.1002/mgg3.342DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902399PMC
March 2018
8 Reads

Symmetrical Drug-related Intertriginous and Flexural Exanthema Induced by Doxycycline.

Cureus 2017 Nov 10;9(11):e1836. Epub 2017 Nov 10.

Department of Dermatology, Brigham & Women's Hospital, Harvard Medical School.

Symmetrical drug-related intertriginous and flexural exanthema (SDRIFE) is a cutaneous drug reaction characterized by erythema over the buttocks, thighs, groin, and flexural regions most commonly associated with the use of beta-lactam antibiotics. Although the exact pathophysiology of this disease remains unknown, it is theorized to be the result of a delayed hypersensitivity response presenting as a cutaneous eruption days to weeks after exposure to the drug. The treatment involves discontinuation of the suspected medication, symptomatic control of pruritus, and topical steroid therapy. Read More

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http://dx.doi.org/10.7759/cureus.1836DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5762188PMC
November 2017
3 Reads

Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization.

Mol Genet Metab Rep 2018 Mar 27;14:47-54. Epub 2017 Dec 27.

Research and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russia.

We present the results of the 45-year clinical observation of 27 Russian homocystinuria patients. We made a mutation analysis of the gene for thirteen patients from eleven unrelated genealogies. All patients except for the two were compound heterozygotes for the mutations detected. Read More

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http://dx.doi.org/10.1016/j.ymgmr.2017.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5758839PMC
March 2018
3 Reads

Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome.

CEN Case Rep 2018 May 2;7(1):73-76. Epub 2018 Jan 2.

Nephrology Department, Centro Hospitalar de Lisboa Central E.P.E., Hospital Curry Cabral, Rua da Beneficência 8, 1069-166, Lisbon, Portugal.

Thrombotic microangiopathy (TMA) syndromes can be secondary to a multitude of different diseases. Most can be identified with a systematic approach and, when excluded, TMA is generally attributed to a dysregulation in the activity of the complement alternative pathways-atypical hemolytic uremic syndrome (aHUS). We present a challenging case of a 19-year-old woman who presented with thrombotic microangiopathy, which was found to be caused by methylmalonic acidemia and homocystinuria, a rare vitamin B12 metabolism deficiency. Read More

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http://dx.doi.org/10.1007/s13730-017-0298-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886929PMC
May 2018
16 Reads

Homocystinuria with Stroke and Positive Familial History.

Adv Biomed Res 2017 25;6:132. Epub 2017 Oct 25.

Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.

Homocystinuria is the second most common treatable aminoacidopathy. Clinically, affected patients present with eye, skeleton, central nervous system, and most importantly, vascular system abnormalities. This autosomal recessive disorder leads to accumulation of homocysteine and its metabolites in the blood and urine. Read More

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http://dx.doi.org/10.4103/2277-9175.217215DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5674651PMC
October 2017
1 Read

Crystal structure of cystathionine β-synthase from honeybee Apis mellifera.

J Struct Biol 2018 Apr 21;202(1):82-93. Epub 2017 Dec 21.

Structural Biology Unit, Center for Cooperative Research in Biosciences (CIC Biogune), Technology Park of Bizkaia, 48160 Derio, Bizkaia, Spain. Electronic address:

Cystathionine β-synthase (CBS), the key enzyme in the transsulfuration pathway, links methionine metabolism to the biosynthesis of cellular redox controlling molecules. CBS catalyzes the pyridoxal-5'-phosphate-dependent condensation of serine and homocysteine to form cystathionine, which is subsequently converted into cysteine. Besides maintaining cellular sulfur amino acid homeostasis, CBS also catalyzes multiple hydrogen sulfide-generating reactions using cysteine and homocysteine as substrates. Read More

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http://dx.doi.org/10.1016/j.jsb.2017.12.008DOI Listing
April 2018
11 Reads

Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake.

J Nutr Metab 2017 15;2017:8570469. Epub 2017 Nov 15.

National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.

A low methionine diet is the mainstay of treatment for pyridoxine nonresponsive homocystinuria (HCU). There are various guidelines for recommended protein intakes for HCU and clinical practice varies. Poor growth has been associated with low cystine levels. Read More

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http://dx.doi.org/10.1155/2017/8570469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5705888PMC
November 2017
2 Reads

Manifestations of neurological symptoms and thromboembolism in adults with MTHFR-deficiency.

J Neurol Sci 2017 Dec 6;383:123-127. Epub 2017 Nov 6.

Division of Nephrology and Dialysis, Department of Medicine III, Medical University of Vienna, Vienna, Austria.

Background: Methylenetetrahydrofolate-reductase (MTHFR) deficiency is a rare autosomal recessive disorder affecting intracellular folate metabolism with affection of different organ systems and clinical manifestation usually in childhood.

Objective: We report on four adult members of a family with MTHFR deficiency presenting with neurological and thromboembolic complications in adulthood.

Methods: Extensive diagnostic work-up including genetic testing was performed in four adult members. Read More

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http://dx.doi.org/10.1016/j.jns.2017.10.035DOI Listing
December 2017
7 Reads

Late diagnosis of homocystinuria in an adult after extensive cerebral venous thrombosis.

Pract Neurol 2018 Feb 24;18(1):49-51. Epub 2017 Nov 24.

Department of Neurology, Hospital Universitario de la Princesa, Madrid, Spain.

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http://dx.doi.org/10.1136/practneurol-2017-001795DOI Listing
February 2018
4 Reads