1,522 results match your criteria Refsum Disease
Otol Neurotol 2019 Jan;40(1):e58-e59
Department of Otolaryngology.
J Nutr 2018 Dec;148(suppl_4):1995S-2027S
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD.
This report on vitamin B-12 (B12) is part of the Biomarkers of Nutrition for Development (BOND) Project, which provides state-of-the art information and advice on the selection, use, and interpretation of biomarkers of nutrient exposure, status, and function. As with the other 5 reports in this series, which focused on iodine, folate, zinc, iron, and vitamin A, this B12 report was developed with the assistance of an expert panel (BOND B12 EP) and other experts who provided information during a consultation. The experts reviewed the existing literature in depth in order to consolidate existing relevant information on the biology of B12, including known and possible effects of insufficiency, and available and potential biomarkers of status. Read More
Nutrients 2018 Nov 23;10(12). Epub 2018 Nov 23.
Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, 0372 Oslo, Norway.
Dietary and plasma total cysteine (tCys) have been associated with adiposity, possibly through interaction with stearoyl⁻CoA desaturase (SCD), which is an enzyme that is involved in fatty acid and energy metabolism. We evaluated the effect of a dietary intervention with low cysteine and methionine and high polyunsaturated fatty acids (PUFAs) on plasma and urinary sulfur amino acids and SCD activity indices. Fourteen normal-weight healthy subjects were randomized to a seven-day diet low in cysteine and methionine and high in PUFAs (Cys/Met + PUFA), or high in saturated fatty acids (SFA), cysteine, and methionine (Cys/Met + SFA). Read More
Subcell Biochem 2018 ;89:345-365
Laboratory Genetic Metabolic Diseases, Departments Clinical Chemistry and Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
Peroxisomes catalyze a number of essential metabolic functions and impairments in any of these are usually associated with major clinical signs and symptoms. In contrast to mitochondria which are autonomous organelles that can catalyze the degradation of fatty acids, certain amino acids and other compounds all by themselves, peroxisomes are non-autonomous organelles which are highly dependent on the interaction with other organelles and compartments to fulfill their role in metabolism. This includes mitochondria, the endoplasmic reticulum, lysosomes, and the cytosol. Read More
J Clin Psychopharmacol 2018 Dec;38(6):570-576
Center for Psychopharmacology, Diakonhjemmet Hospital.
Purpose: Olanzapine is a commonly prescribed antipsychotic available as oral and long-acting injectable (LAI) formulations. Data are lacking on the use and safety of olanzapine-LAI in older patients. The aim of this study was to investigate the effect of increasing age on olanzapine exposure during oral versus LAI administration in a real-life setting. Read More
J Biochem 2018 Oct 8. Epub 2018 Oct 8.
Sandor life sciences Pvt Ltd, Banjara Hills, Road No: 3, Hyderabad, India.
We have established diagnostic thresholds of very long-chain fatty acids (VLCFA) for the differential diagnosis of peroxisomal disorders using the machine learning tools. The plasma samples of 131 controls and 90 cases were tested for VLCFA using Gas chromatography-Mass spectrometry following stable isotope dilution. This data was used to construct association rules and for recursive partitioning. Read More
J Appl Physiol (1985) 2018 Sep 13. Epub 2018 Sep 13.
Department of Physical Performance, Norwegian School of Sport Sciences, Norway.
The aim of the present study was to investigate the effect of protein and carbohydrate ingestion during early recovery from exhaustive exercise on performance after 18 h recovery. Eight elite cyclists (VO 74.0±1. Read More
J Dermatol Sci 2018 Oct 8;92(1):10-17. Epub 2018 Mar 8.
Department of Dermatology and Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, South Korea.
The epidermal lamellar bodies (LBs) are specialized organelles that contain pro-barrier lipids imparting a fully lamellar internal structure, but also other cargoes such as enzymes (lipid metabolizing and proteolytic), enzyme inhibitors, and antimicrobial peptides. Thus, the LB secretory system, by virtue of delivering these cargoes to the stratum corneum (SC) interstices, is essential for forming the various skin barriers located in the SC. Ultrastructural studies have suggested that the morphologic features of LBs reflect the functional status of the SC. Read More
Br J Surg 2018 Dec 22;105(13):1778-1792. Epub 2018 Aug 22.
Population Health Sciences, Bristol Medical School, Bristol, UK.
Background: Therapeutic mammaplasty, which combines breast reduction and mastopexy techniques with tumour excision, may extend the boundaries of breast-conserving surgery and improve outcomes for patients, but current practice is unknown and high-quality outcome data are lacking. This prospective multicentre cohort study aimed to explore the practice and short-term outcomes of the technique.
Methods: Consecutive patients undergoing therapeutic mammaplasty at participating centres between 1 September 2016 and 30 June 2017 were recruited to the study. Read More
Ther Drug Monit 2018 10;40(5):567-571
Center for Psychopharmacology, Diakonhjemmet Hospital.
Background: Previous studies have reported inconsistent findings regarding the impact of the UGT1A4*3 variant allele on lamotrigine (LTG) exposure. As no studies have controlled for nongenetic factors, the aim of this study was to compare serum concentrations of LTG in carriers versus noncarriers of UGT1A4*3 adjusting for differences in age, sex, and valproic acid (VPA) comedication.
Methods: Matched data on serum concentration of LTG and UGT1A4 genotype patients with known information about VPA comedication were included retrospectively from a therapeutic drug monitoring service. Read More
Eur J Prev Cardiol 2018 Oct 17;25(15):1612-1620. Epub 2018 Jul 17.
2 Department of Heart Disease, Haukeland University Hospital, Bergen, Norway.
Background Plasma total homocysteine (tHcy) has been implicated in the development of cardiovascular disease, but the mechanisms remain unclear. Vitamin A (Vit-A) is involved in homocysteine metabolism and we therefore explored the potential interaction between plasma tHcy and serum Vit-A in relation to incident acute myocardial infarction. Methods Cox proportional hazards models were used to assess the prospective relationships between tHcy and acute myocardial infarction in 2205 patients from Western Norway undergoing elective coronary angiography for suspected stable angina pectoris. Read More
Handb Clin Neurol 2018 ;154:287-298
Department of Pediatric Neurology, University Children's Hospital, University of Zurich, Zurich, Switzerland; Departments of Neurology and Ophthalmology, University Hospital Zurich, University of Zurich, Switzerland.
This chapter deals with chemical and hematologic investigations which are often considered in the diagnostic workup of subacute to chronic cerebellar ataxias. Relevant investigations in blood (serum, plasma), urine, and cerebrospinal fluid are discussed. Particular attention is paid to early diagnosis of treatable metabolic ataxias (such as abetalipoproteinemia, coenzyme Q10 deficiency, cerebrotendinous xanthomatosis, glucose transporter type 1 deficiency, Refsum disease, and vitamin E deficiency), but autoimmune ataxias, other vitamin deficiencies, and endocrine disorders should also be kept in mind. Read More
J Nutr 2018 Jul;148(7):1073-1080
Diabetes and Metabolism Division, Garvan Institute of Medical Research, Sydney, Australia.
Background: Plasma concentrations of branched-chain amino acids (BCAAs) and the sulfur-containing amino acid cysteine are associated with obesity and insulin resistance. BCAAs predict future diabetes.
Objective: We investigated amino acid changes during food overconsumption. Read More
J Clin Neurosci 2018 Jul 30;53:231-234. Epub 2018 Apr 30.
Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, China National Clinical Research Center for Neurological Diseases, Beijing 100050, China. Electronic address:
Charcot-Marie-Tooth disease 4D (CMT4D) is characterized by severe peripheral neuropathy and deafness. It is caused by mutations in the N-myc downstream-regulated gene 1 (NDRG1). We report a Chinese man with a homozygous mutation c. Read More
CNS Neurol Disord Drug Targets 2018 ;17(3):161-171
Department of Medicine, Faculty of Medicine, Laval University and CHU de Quebec-Laval University, Axe Neurosciences, 1401, 18th Street, Quebec, QC, Canada.
Background & Objective: Ataxia is clinically characterized by unsteady gait and imbalance. Cerebellar disorders may arise from many causes such as metabolic diseases, stroke or genetic mutations. The genetic causes are classified by mode of inheritance and include autosomal dominant, X-linked and autosomal recessive ataxias. Read More
Neurology 2018 May 6;90(19):890-892. Epub 2018 Apr 6.
From the Institute of Clinical Neurosciences (R.L.T., S.K.J., A.S.Y., G.M.H., M.S.W.) and Department of Clinical Biochemistry (D.S.), Royal Prince Alfred Hospital, and Faculty of Medicine (D.S.), Central Clinical School, University of Sydney; and The Balance Clinic and Laboratory (A.S.Y., M.S.W.), Sydney, Australia.
Ultrastruct Pathol 2018 May-Jun;42(3):220-227. Epub 2018 Feb 26.
c Genetics Division, Department of Pediatrics, Keck School of Medicine , University of Southern California , Los Angeles , California , USA.
Zellweger spectrum disorders (ZSD) are rare autosomal recessive inherited metabolic disorders and include severe (Zellweger syndrome) and milder phenotypes [neonatal adrenoleukodystrophy and infantile Refsum disease (IRD)]. ZSD are characterized by impaired peroxisomal functions and lack of peroxisomes detected by electron microscopy (EM). ZSD are caused by mutations in any of the 14 PEX genes. Read More
J Alzheimers Dis 2018 ;62(2):561-570
Department of Clinical Chemistry and Laboratory Medicine, University Hospital of the Saarland, Germany.
Identification of modifiable risk factors provides a crucial approach to the prevention of dementia. Nutritional or nutrient-dependent risk factors are especially important because dietary modifications or use of dietary supplements may lower the risk factor level. One such risk factor is a raised concentration of the biomarker plasma total homocysteine, which reflects the functional status of three B vitamins (folate, vitamins B12, B6). Read More
Adv Food Nutr Res 2018;83:215-279. Epub 2018 Feb 2.
Department of Nutrition, University of Oslo, Oslo, Norway.
The biosynthesis of B, involving up to 30 different enzyme-mediated steps, only occurs in bacteria. Thus, most eukaryotes require an external source of B, and yet the vitamin appears to have only two functions in eukaryotes: as a cofactor for the enzymes methionine synthase and methylmalonylCoA mutase. These two functions are crucial for normal health in humans, and in particular, the formation of methionine is essential for providing methyl groups for over 100 methylation processes. Read More
Pediatr Transplant 2018 05 16;22(3):e13112. Epub 2018 Feb 16.
Service de Gastro-Entérologie et Hépatologie Pédiatrique, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.
Mild Zellweger spectrum disorder, also described as Infantile Refsum disease, is attributable to mutations in PEX genes. Its clinical course is characterized by progressive hearing and vision loss, and neurodevelopmental regression. Supportive management is currently considered the standard of care, as no treatment has shown clinical benefits. Read More
Lipids 2018 01 15;53(1):5-25. Epub 2018 Feb 15.
Institute of Microbiology, Academy of Sciences of the Czech Republic, Vídeňská 1083, Prague, 142 20, Czech Republic.
Lipids are among the most important organic compounds found in all living cells, from primitive archaebacteria to flowering plants or mammalian cells. They form part of cell walls and constitute cell storage material. Their biosynthesis and metabolism play key roles in faraway topics such as biofuel production (third-generation biofuels produced by microorganisms, e. Read More
J Pediatr Genet 2018 Mar 4;7(1):1-8. Epub 2018 Jan 4.
Department of Otolaryngology - Head and Neck Surgery, Indiana University School of Medicine, Indianapolis, Indiana, United States.
Congenital hearing loss is one of the most common birth defects worldwide, with around 1 in 500 people experiencing some form of severe hearing loss. While over 400 different syndromes involving hearing loss have been described, it is important to be familiar with a wide range of syndromes involving hearing loss so an early diagnosis can be made and early intervention can be pursued to maximize functional hearing and speech-language development in the setting of verbal communication. This review aims to describe the presentation and genetics for some of the most frequently occurring syndromes involving hearing loss, including neurofibromatosis type 2, branchio-oto-renal syndrome, Treacher Collins syndrome, Stickler syndrome, Waardenburg syndrome, Pendred syndrome, Jervell and Lange-Nielsen syndrome, Usher syndromes, Refsum disease, Alport syndrome, MELAS, and MERRF. Read More
Ann Nutr Metab 2018 25;72(2):117-125. Epub 2018 Jan 25.
Department of Internal Medicine, Maastricht University, Maastricht, the Netherlands.
Aims: To evaluate whether participant characteristics and way of expressing circulating fatty acids (FA) influence the strengths of associations between self-reported intake and circulating levels of linoleic acid (LA), alpha-linolenic acid (ALA), eicosapentaenoic acid (EPA), and docosahexaenoic acid (DHA).
Methods: Cross-sectional analyses were performed in pooled data from the CODAM (n = 469) and Hoorn (n = 702) studies. Circulating FA were measured by gas liquid chromatography and expressed as proportions (% of total FA) and concentrations (µg/mL). Read More
Oxf Med Case Reports 2017 Dec 29;2017(12):omx076. Epub 2017 Dec 29.
Department of Psychiatry, University of Oxford, Oxford OX3 7JX, UK.
A 19-year-old male with 22q11.2 deletion syndrome presented with a 4-year history of cognitive decline and symptoms suggestive of atypical psychosis. Potential for elevated homocysteine and NMDA-receptor antibodies in the pathogenesis of his symptoms was investigated. Read More
Thromb Res 2018 02 29;162:69-76. Epub 2017 Dec 29.
Center for Hematology and Regenerative Medicine (HERM), Karolinska Institutet, Stockholm, Sweden; Clinical Immunology and Transfusion Medicine, Karolinska University Hospital, Stockholm, Sweden. Electronic address:
Background: In fetal and neonatal alloimmune thrombocytopenia (FNAIT), maternal alloantibodies directed against paternally-derived platelet antigens are transported across the placenta to the fetus, where they may cause thrombocytopenia. The most serious complication of FNAIT is an intracranial hemorrhage (ICH), which may cause death or life-long disability of the child. Apart from alloantibody-mediated platelet destruction, the clinical outcome in FNAIT may be affected by properties of neonatal platelets and possible functional effects on platelets caused by maternal alloantibodies. Read More
Can J Ophthalmol 2017 Dec 22;52(6):543-547. Epub 2017 Jul 22.
Cornea and Refractive Surgery Service, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA.
Objective: To investigate intraoperative complications, postoperative findings, and visual acuity outcomes in patients with retinal dystrophy after cataract surgery.
Design: Retrospective chart review at an academic tertiary referral centre.
Participants: Thirty eyes from 18 patients with retinitis pigmentosa and other retinal dystrophies (Usher syndrome, Refsum disease, and Leber congenital amaurosis) who underwent cataract surgery were identified by searching the electronic medical record system from January 2010 to September 2015 for all patients treated by a single physician with billing codes for retinal dystrophy and cataract surgery. Read More
Clin Epidemiol 2017 8;9:555-566. Epub 2017 Nov 8.
Department of Pharmacology, University of Oxford, Oxford, UK.
Objective: We compared Clínica Universidad de Navarra-Body Adiposity Estimator (CUN-BAE) and body mass index (BMI) as correlates of body fat percent (BF%) and the association with future risk of cardiovascular disease (CVD) and type 2 diabetes in a Caucasian population.
Methods: We used data from 6796 individuals (born 1925-27 and 1950-52) from the Hordaland Health Study, a prospective cohort study in Norway. The study was conducted in 1992-1993 and 1997-1999. Read More
J Prev Alzheimers Dis 2017 ;4(3):138-139
Prof. A. David Smith, Department of Pharmacology, Mansfield Rd. Oxford OX1 3QT. Tel: +44-1865-271617; Fax: +44-1865-271853. Email:
PLoS One 2017 13;12(11):e0188035. Epub 2017 Nov 13.
Institute of Food Chemistry, University of Hohenheim, Stuttgart, Germany.
Patients suffering from Refsum's disease show mutations in the enzyme necessary for the degradation of phytanic acid. Accumulation of this tetramethyl-branched fatty acid in inner organs leads to severe neurological and cardiac dysfunctions which can even result in death. Thus, patients with Refsum's disease have to follow a specific diet resigning foods with high levels of phytanic acid and trans-phytol like products from ruminant animals with a tolerable daily intake (TDI) of ≤ 10 mg/d. Read More
Transfusion 2018 01 8;58(1):223-231. Epub 2017 Nov 8.
Department of Obstetrics and Gynecology, Karolinska University Hospital, Stockholm, Sweden.
Background: Fetal and neonatal alloimmune thrombocytopenia (FNAIT) is a rare condition, with an estimated incidence of one in 1000 to 2000 live births. Predominantly, FNAIT is due to maternal alloantibodies that target paternally derived human platelet antigen (HPA) 1a. The most feared complication is an intracranial hemorrhage (ICH). Read More
PLoS One 2017 5;12(10):e0185760. Epub 2017 Oct 5.
Department of Obstetrics, Division of Obstetrics and Gynecology, Oslo University Hospital, Oslo, Norway.
Objectives: The current concepts of human fetal-placental amino acid exchange and metabolism are mainly based on animal-, in vitro- and ex vivo models. We aimed to determine and assess the paired relationships between concentrations and arteriovenous differences of 19 amino acids on the maternal and fetal sides of the human placenta in a large study sample.
Methods: This cross-sectional in vivo study included 179 healthy women with uncomplicated term pregnancies. Read More
J Alzheimers Dis 2017 ;60(2):495-504
Department of Clinical Science, University of Bergen, Norway.
Background: Metabolites of tryptophan, produced via the kynurenine pathway (kynurenines), have been linked to Alzheimer's disease (AD) in small cohorts with conflicting results.
Objective: To compare differences in plasma kynurenine levels between AD and controls and identify potential associations with cognition.
Methods: The study included 65 histopathologically-confirmed AD patients and 65 cognitively-screened controls from the Oxford Project to Investigate Memory and Ageing (OPTIMA) cohort. Read More
Eur J Nutr 2018 Oct 30;57(7):2629-2637. Epub 2017 Aug 30.
Section of Nutrition and Dietetics, Division of Medicine, Department of Clinical Service, Oslo University Hospital Aker, Oslo, Norway.
Purpose: Plasma concentrations of several amino acids (AAs) are positively correlated with obesity. The aim of this study was to examine if selected plasma AAs are associated with weight regain from 2 to 4 years after Roux-en-Y gastric bypass (RYGB).
Methods: In a prospective study with 165 patients, we examined the relationship between plasma aromatic AAs (AAAs), branched chain AAs (BCAAs), and total cysteine (tCys) 2 years after RYGB, with BMI at 2 years and with weight change from 2 to 4 years after surgery. Read More
Hum Mutat 2017 11 23;38(11):1569-1578. Epub 2017 Aug 23.
Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and the Collaborative Innovation Center for Brain Science, Zhejiang University School of Medicine, Hangzhou, China.
Charcot-Marie-Tooth disease type 4D (CMT4D) is an autosomal-recessive demyelinating form of CMT characterized by a severe distal motor and sensory neuropathy. NDRG1 is the causative gene for CMT4D. To date, only four mutations in NDRG1 -c. Read More
Atherosclerosis 2017 10 21;265:325-330. Epub 2017 Jul 21.
Department of Heart Disease, Haukeland University Hospital, 5021 Bergen, Norway; KG Jebsen Centre for Diabetes Research, University of Bergen, 5009 Bergen, Norway; Department of Clinical Science, Faculty of Medicine, University of Bergen, 5021 Bergen, Norway.
Background And Aims: Apolipoproteins B (apoB) and A1 (apoA1) are major protein constituents of low-density and high-density lipoproteins, respectively, and serum concentrations of these apolipoproteins are associated with risk of atherosclerosis. Vitamin A (VA) has been implicated in lipoprotein metabolism. We evaluated the associations of serum apoB, apoA1 and their ratio (apoBAR) with risk of incident acute myocardial infarction (AMI) and the possible modification by serum VA. Read More
Am J Surg 2018 Aug 21;216(2):217-221. Epub 2017 Jul 21.
Department of Gastrointestinal Surgery, Diakonhjemmet Hospital, Oslo, Norway; Department of Gastrointestinal and Hepato-Pancreato-Biliary Surgery, Oslo University Hospital, Rikshospitalet, Oslo, Norway. Electronic address:
Background: The aim of this study was to determine the frequency and indications for unplanned readmission and outpatient examination after acute appendectomy.
Methods: Adults who underwent acute appendectomy from 2008-2013 were included in the study and events occurring within 90-days from discharge recorded.
Results: A total of 710 patients underwent surgery. Read More
Hernia 2017 10 27;21(5):729-735. Epub 2017 Jul 27.
Department of Surgery, Diakonhjemmet Hospital, PO Box 23, Vinderen, 0319, Oslo, Norway.
Background: Laparoscopic total extraperitoneal repair (TEP) of inguinal hernia has been associated with higher rates of recurrence compared to open methods. The aim of the present study was to determine independent risk factors for recurrence within 2 years after TEP.
Methods: This was a single-centre prospective cohort study with consecutive inclusion of patients undergoing inguinal hernia repair from 2010 to 2014. Read More
J Reprod Immunol 2017 08 27;122:1-9. Epub 2017 Jun 27.
Immunology Research Group, Department of Medical Biology, UiT The Arctic University of Norway, Tromsø, Norway; Department of Obstetrics and Gynecology, University Hospital of North Norway, Tromsø, Norway. Electronic address:
Anti-HLA class I antibodies have been suggested as a possible cause of fetal and neonatal alloimmune thrombocytopenia (FNAIT). The aim of this study was to characterize maternal anti-HLA class I alloantibodies in suspected cases of FNAIT. The study population consisted of all nationwide referrals of neonates with suspected FNAIT to the National Unit for Platelet Immunology in Tromsø, Norway, during 1998-2009 (cases), and 250 unselected pregnancies originally included in a prospective study (controls). Read More
Ann Otol Rhinol Laryngol 2017 Aug 6;126(8):611-614. Epub 2017 Jul 6.
1 Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital Essen, Essen, Germany.
Objectives: Whether the origin of severe hearing loss in Refsum's syndrome is caused by cochlear impairment or retrocochlear degeneration remains unclear. This case report aims to investigate hearing performance before and after cochlear implantation to shed light on this question. Also, identification of new mutations causing Refsum's syndrome would be helpful in generating additional means of diagnosis. Read More
Tidsskr Nor Laegeforen 2017 Jun 26;137(12-13):854. Epub 2017 Jun 26.
Biochim Biophys Acta Mol Cell Biol Lipids 2017 Sep 17;1862(9):972-990. Epub 2017 Jun 17.
LIPIT, Department of Cellular and Molecular Medicine, KU Leuven, Belgium. Electronic address:
2-Hydroxyacyl-CoA lyase (HACL1) is a key enzyme of the peroxisomal α-oxidation of phytanic acid. To better understand its role in health and disease, a mouse model lacking HACL1 was investigated. Under normal conditions, these mice did not display a particular phenotype. Read More
Mol Genet Metab 2017 07 6;121(3):279-282. Epub 2017 May 6.
Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, 1105, AZ, The Netherlands.
Phytanic acid is a branched-chain fatty acid, the level of which is elevated in patients with a variety of peroxisomal disorders, including Refsum disease, and Rhizomelic chondrodysplasia punctata type 1 and 5. Elevated levels of both phytanic and pristanic acid are found in patients with Zellweger Spectrum Disorders, and pristanic acid is elevated in patients with α-methylacyl-CoA racemase deficiency. For the diagnosis of peroxisomal disorders, a variety of metabolites can be measured in blood samples from suspected patients, including very long-chain fatty acids, phytanic and pristanic acid. Read More
JAMA Pediatr 2017 Jul;171(7):710-711
Department of Pharmacology, University of Oxford, Oxford, United Kingdom.
Methods Mol Biol 2017 ;1595:329-342
Department Paediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, AZ, 1105, The Netherlands.
The peroxisomal disorders (PDs) are a heterogeneous group of genetic diseases in man caused by an impairment in peroxisome biogenesis or one of the metabolic functions of peroxisomes. Thanks to the revolutionary technical developments in gene sequencing methods and their increased use in patient diagnosis, the field of genetic diseases in general and peroxisomal disorders in particular has dramatically changed in the last few years. Indeed, several novel peroxisomal disorders have been identified recently and in addition it has been realized that the phenotypic spectrum of patients affected by a PD keeps widening, which makes clinical recognition of peroxisomal patients increasingly difficult. Read More
Biochim Biophys Acta Mol Cell Biol Lipids 2017 Jun 17;1862(6):623-635. Epub 2017 Feb 17.
Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Norway; The Norwegian Transgenic Center, Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Norway. Electronic address:
Plasma cysteine is strongly associated with body fat mass in human cohorts and diets low in cysteine prevents fat accumulation in mice. It is unclear if plasma cysteine affects fat development or if fat accumulation raises plasma cysteine. To determine if cysteine affects adipogenesis, we differentiated 3T3-L1 preadipocytes in medium with reduced cysteine. Read More
J Inherit Metab Dis 2017 07 6;40(4):491-495. Epub 2017 Feb 6.
Division of Gastroenterology/Hepatology/Nutrition Children's Hospital of Pittsburgh of UPMC, Pittsburgh Liver Research Centre, University of Pitttsburgh, 4401 Penn Avenue, Pittsburgh, PA, 15224, USA.
The indications and outcomes of liver transplantation for metabolic disease have been reviewed recently and this short review concentrates on recent developments and advances. Recently recognized metabolic causes of acute liver failure are reviewed and their implications for transplantation discussed. Newly described indications for liver transplantation in systemic metabolic diseases are described and an update is given on the role of auxiliary and domino liver transplantation. Read More
J Hum Genet 2017 Mar 22;62(3):431-435. Epub 2016 Dec 22.
Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
Hereditary motor and sensory neuropathy-type Lom (HMSNL), also known as CMT4D, a demyelinating neuropathy with late-onset deafness is an autosomal recessive disorder threatening Roma population worldwide. The clinical phenotype was reported in several case reports before the gene discovery. HMSNL is caused by a homozygous founder mutation p. Read More
J Peripher Nerv Syst 2017 03;22(1):47-50
Unit of Rare Neurological Diseases of Adulthood, Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.
Charcot-Marie-Tooth disease type 4D (CMT4D), also known as hereditary motor and sensory neuropathy Lom type (HMSNL), is an autosomal recessive, early onset, severe demyelinating neuropathy with hearing loss, caused by N-Myc downstream-regulated gene 1 (NDRG1) mutations. CMT4D is rare with only three known mutations, one of which (p.Arg148Ter) is found in patients of Romani ancestry and accounts for the vast majority of cases. Read More
Food Chem 2017 Apr 18;221:237-247. Epub 2016 Oct 18.
Departamento de Quimica Analitica, Nutricion y Bromatologia, Facultad de Veterinaria, Universidade de Santiago de Compostela, Pabellón 4, Planta Baja, 27002 Lugo, Spain.
Phytanic acid is a methyl-branched fatty acid present in the human diet, derived from the enzymatic degradation of phytol and subsequently oxidized by the rumenal microbiota and certain marine organisms. Consequently, phytanic acid is carried into the human body by means of food ingestion, mostly via red meat, dairy products and fatty marine foods. This fatty acid accumulates in people with some peroxisomal disorders and is traditionally related to neurological damage. Read More