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Am J Med Genet A 2021 Jun 12. Epub 2021 Jun 12.

Hans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.

Idiopathic ketotic hypoglycemia (IKH) is a diagnosis of exclusion with glycogen storage diseases (GSDs) as a differential diagnosis. GSD IXa presents with ketotic hypoglycemia (KH), hepatomegaly, and growth retardation due to PHKA2 variants. In our multicenter study, 12 children from eight families were diagnosed or suspected of IKH. Read More

Zhonghua Er Ke Za Zhi 2021 Jun;59(6):534-536

Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.

Zhonghua Er Ke Za Zhi 2021 Jun;59(6):522-525

Department of Pediatrics, the First Affiliated of Naval Medical University, Shanghai 200433, China.

Zhonghua Er Ke Za Zhi 2021 Jun;59(6):459-465

Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.

To analyze the clinical features, genetic characteristics, treatment and follow-up results of patients with hydrocephalus caused by methylmalonic acidemia combined with homocysteinuria, and to discuss the optimal strategies for assessing and treating such patients. From January 1998 to December 2020, 76 patients with hydrocephalus due to methylmalonic acidemia combined with homocysteinuria in the Department of Pediatrics in 11 hospitals including Peking University First Hospital were diagnosed by biochemical, genetic analysis and brain imaging examination. The patients were divided into operation-group and non-operation-group according to whether they underwent ventriculoperitoneal shunt. Read More

Zhonghua Er Ke Za Zhi 2021 Jun;59(6):452-458

Department of Pediatrics, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.

Continuous glucose monitoring (CGM) were performed in children with hepatic glycogen storage disease (GSD) to accurately understand the situation of glucose levels during their treatment, and to provide support for optimizing their nutritional management. In this retrospective research, 42 patients with hepatic GSD who under went 72 h CGM were collected from Department of Pediatrics, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology from October 2019 to January 2020. According to the genetic test results, they were divided into 5 groups: type Ⅰa, type Ⅰb, type Ⅲa, type Ⅵ and type Ⅸa. Read More

Zhonghua Er Ke Za Zhi 2021 Jun;59(6):446-451

Zhonghua Er Ke Za Zhi 2021 Jun;59(6):439-445

Zhonghua Er Ke Za Zhi 2021 Jun;59(6):435-438

Department of Pediatrics, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.

J Coll Physicians Surg Pak 2021 Jun;30(6):663-667

Department of Pediatric Metabolic Diseases, Dr. Sami Ulus, Maternity and Child Health, Training and Research Hospital, Ankara, Turkey.

Objective: To determine the relationship of oxidative stress status with follow-up parameters, metabolic control status, and treatment compliance evaluation in patients diagnosed within toxication type inherited metabolic disease (IMDs).

Study Design: Descriptive, analytical study.

Place And Duration Of Study: Dr. Read More

BMC Pediatr 2021 06 5;21(1):262. Epub 2021 Jun 5.

Department of Pediatrics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.

Introduction: Girls with classical congenital adrenal hyperplasia (CAH) are exposed to excess fetal adrenal androgens in-utero, and often born with masculinised genitalia. They are conventionally reared as females, but show more "boyish" gender-role behaviour (GRB) and gender-identity (GI) issues in childhood and adolescence. Male-rearing is also reported mainly due to delayed treatment and/or socio-cultural factors. Read More

BMC Ophthalmol 2021 Jun 5;21(1):249. Epub 2021 Jun 5.

Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08, Prague, Czech Republic.

Background: ALG3-CDG is a rare autosomal recessive disease. It is characterized by deficiency of alpha-1,3-mannosyltransferase caused by pathogenic variants in the ALG3 gene. Patients manifest with severe neurologic, cardiac, musculoskeletal and ophthalmic phenotype in combination with dysmorphic features, and almost half of them die before or during the neonatal period. Read More

BMC Pediatr 2021 05 31;21(1):253. Epub 2021 May 31.

Hematology Center; Beijing Key Laboratory of Pediatric Hematology Oncology; National Key Discipline of Pediatrics (Capital Medical University); Key Laboratory of Major Diseases in Children, Ministry of Education; Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100045, Beijing, China.

Background: Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in RAB27A gene. It is primarily characterized by a combination of partial albinism, hemophagocytic lymphohistiocytosis (HLH) or other immunodeficiency. However, neurological involvement at onset in GS2 and treatment has rarely been described. Read More

Intern Med J 2021 May;51(5):769-779

School of Medicine, University of Western Australia, Perth, Western Australia, Australia.

Familial hypercholesterolaemia (FH) is a common, heritable and preventable cause of premature coronary artery disease. New clinical practice recommendations are presented to assist practitioners in enhancing the care of all patients with FH. Core recommendations are made on the detection, diagnosis, assessment and management of adults, children and adolescents with FH. Read More

BMJ Case Rep 2021 May 27;14(5). Epub 2021 May 27.

Dermatology, King Edward Memorial Hospital and Seth Gordhandas Sunderdas Medical College, Mumbai, Maharashtra, India.

Diagnosis of rare disorders requires heightened clinical acumen. When such disorders present with atypical or novel features, it adds to the diagnostic challenge. A 9-month-old female infant who had received a diagnosis of neonatal hepatitis due to cytomegalovirus infection at 2 months of age presented to our institute with developmental delay, fever, vomiting, feeding difficulty, breathlessness and features of elevated intracranial pressure due to hydrocephalus. Read More

Curr Opin Immunol 2021 May 24;72:135-145. Epub 2021 May 24.

Translational Gastroenterology Unit, University of Oxford, Oxford, UK; Biomedical Research Center, University of Oxford, Oxford, UK; Department of Pediatrics, University of Oxford, Oxford, UK. Electronic address:

The IL-6 family of cytokines mediates functions in host protective immunity, development of multiple organs, tissue regeneration and metabolism. Inborn errors in cytokines or cytokine receptor units highlight specific roles for IL-6, IL-11, LIF, OSM, and CLC signaling whereas incomplete loss-of-function variants in the common receptor chain GP130 encoded by IL6ST or the transcription factor STAT3, as well as genes that affect either GP130 glycosylation (PGM3) or STAT3 transcriptional control (ZNF341) lead to complex phenotypes including features of hyper-IgE syndrome. Gain-of-function variants in the GP130-STAT3 signaling pathway cause immune dysregulation disorders. Read More

Orphanet J Rare Dis 2021 May 24;16(1):239. Epub 2021 May 24.

Department of Inborn Errors of Metabolism and Paediatrics, Institute of Mother and Child, Warsaw, Poland.

Classic galactosemia (OMIM #230400) is an autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in the galactose-1-phosphate uridylyltransferase gene (GALT; 606999) on chromosome 9p13. Its diagnosis is established by detecting elevated erythrocyte galactose-1-phosphate concentration, reduced erythrocyte galactose-1-phosphate uridylyltransferase (GALT) enzyme activity. Biallelic pathogenic variants in the GALT gene is confirmed by DNA analysis. Read More

J Neonatal Perinatal Med 2021 May 18. Epub 2021 May 18.

Department of Biochemistry, University College of Medical sciences and Guru Teg Bahadur Hospital, Delhi, India.

Objectives: Neonatal seizures are significant cause of neonatal mortality and morbidity. Current study was planned to study prevalence of adverse outcomes in neonatal seizures and identify its predictors.

Methods: This observational descriptive study was carried out on 220 neonates with seizures. Read More

Transl Pediatr 2021 Apr;10(4):1201-1230

Neuroradiology Unit, Great Ormond Street Hospital NHS Foundation Trust, London, UK.

Inborn errors of metabolism (IEM) although individually rare, together constitute a significant proportion of childhood neurological disorders. Majority of these disorders occur due to deficiency of an enzyme in a specific metabolic pathway, leading to damage by accumulation of a toxic substrate or deficiency of an essential metabolite. Early diagnosis is crucial in many of these conditions to prevent or minimise brain damage. Read More

BMJ Case Rep 2021 May 19;14(5). Epub 2021 May 19.

Pediatrics, Section of Nephrology, Wake Forest University School of Medicine, Winston Salem, North Carolina, USA.

A 7-year-old girl without a significant previous medical history was diagnosed with X-linked hypophosphatemic rickets (XLHR) due to a rare, most likely pathogenic, gene variant after a 4-year delayed diagnosis due to mild clinical presentation. At 2 years of age, her intoeing and femoral bowing were attributed to physiologic bowing and borderline vitamin D sufficiency, despite phosphorus not being measured. Hypophosphatemia was eventually detected after incomplete improvement of bowing and leg length discrepancy with suboptimal linear growth. Read More

BMC Pediatr 2021 05 18;21(1):237. Epub 2021 May 18.

Department of Pediatrics, Aichi Medical University School of Medicine, 1-1 Yazakokarimata, Nagakute, Aichi, 480-1195, Japan.

Background: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a common form of neonatal jaundice. Histopathological examination of the liver in patients with NICCD typically shows fatty liver, steatohepatitis, and liver fibrosis. Jaundice and fatty liver often improve by 1 year of age. Read More

Mol Genet Metab 2021 May 7. Epub 2021 May 7.

Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, CO, USA. Electronic address:

One of the most vital elements of management for patients with inborn errors of intermediary metabolism is the promotion of anabolism, the state in which the body builds new components, and avoidance of catabolism, the state in which the body breaks down its own stores for energy. Anabolism is maintained through the provision of a sufficient supply of substrates for energy, as well as critical building blocks of essential amino acids, essential fatty acids, and vitamins for synthetic function and growth. Patients with metabolic diseases are at risk for decompensation during prolonged fasting, which often occurs during illnesses in which enteral intake is compromised. Read More

Adv Exp Med Biol 2021 May 13. Epub 2021 May 13.

Department of Histology and Embryology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Lysosomal storage disorders (LSDs) are rare inborn errors of metabolism caused by defects in lysosomal function. These diseases are characterized by accumulation of completely or partially degraded substrates in the lysosomes leading to cellular dysfunction of the affected cells. Currently, enzyme replacement therapies (ERTs), treatments directed at substrate reduction (SRT), and hematopoietic stem cell (HSC) transplantation are the only treatment options for LSDs, and the effects of these treatments depend strongly on the type of LSD and the time of initiation of treatment. Read More

World J Clin Pediatr 2021 May 9;10(3):15-28. Epub 2021 May 9.

Department of Pediatrics, University Medical Center, King Abdulla Medical City, Arabian Gulf University, Manama P.O. Box 26671, Bahrain, Bahrain.

Medical comorbidities are more common in children with autism spectrum disorders (ASD) than in the general population. Some genetic disorders are more common in children with ASD such as Fragile X syndrome, Down syndrome, Duchenne muscular dystrophy, neurofibromatosis type I, and tuberous sclerosis complex. Children with autism are also more prone to a variety of neurological disorders, including epilepsy, macrocephaly, hydrocephalus, cerebral palsy, migraine/headaches, and congenital abnormalities of the nervous system. Read More

BMJ Case Rep 2021 May 7;14(5). Epub 2021 May 7.

Neurosurgery, Great Ormond Street Hospital for Children, London, UK.

We report on a male subject with a diagnosis of Niemann-Pick type C (NPC). He received an experimental medicinal product intrathecally initially via lumbar puncture (LP) and eventually via intrathecal drug delivery device. Shortly after implantation, the device catheter migrated outside of the intrathecal space and coiled subcutaneously. Read More

Mol Genet Genomic Med 2021 May 6;9(5):e1616. Epub 2021 May 6.

Pediatrics Department, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.

Background: Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by the deficient activity of the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a mitochondrial complex encoded by four genes: BCKDHA, BCKDHB, DBT, and DLD. MSUD is predominantly caused by mutations in the BCKDHA, BCKDHB, and DBT genes which encode the E1α, E1β, and E2 subunits of the BCKD complex, respectively. Read More

Mov Disord 2021 May 5. Epub 2021 May 5.

Klinik für Neurologie, Asklepios Fachklinikum Stadtroda, Stadtroda, Germany.

Background: Despite the established value of genomic testing strategies, practice guidelines for their use do not exist in many indications.

Objectives: We sought to validate a recently introduced scoring algorithm for dystonia, predicting the diagnostic utility of whole-exome sequencing (WES) based on individual phenotypic aspects (age-at-onset, body distribution, presenting comorbidity).

Methods: We prospectively enrolled a set of 209 dystonia-affected families and obtained summary scores (0-5 points) according to the algorithm. Read More

Nutrients 2021 Apr 16;13(4). Epub 2021 Apr 16.

Birmingham Women's and Children's Hospital, NHS Foundation Trust, Birmingham B4 6NH, UK.

Protein quality and quantity are important factors in determining lean body (muscle) mass (LBM). In phenylketonuria (PKU), protein substitutes provide most of the nitrogen, either as amino acids (AA) or glycomacropeptide with supplementary amino acids (CGMP-AA). Body composition and growth are important indicators of long-term health. Read More

Int J Mol Sci 2021 Apr 6;22(7). Epub 2021 Apr 6.

Department of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Center-University of Freiburg, 79106 Freiburg, Germany.

In general, metabolic flexibility refers to an organism's capacity to adapt to metabolic changes due to differing energy demands. The aim of this work is to summarize and discuss recent findings regarding variables that modulate energy regulation in two different pathways of mitochondrial fatty metabolism: β-oxidation and fatty acid biosynthesis. We focus specifically on two diseases: very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) and malonyl-CoA synthetase deficiency (acyl-CoA synthetase family member 3 (ACSF3)) deficiency, which are both characterized by alterations in metabolic flexibility. Read More

Arq Gastroenterol 2021 Jan-Mar;58(1):87-92

Universidade Estadual de Campinas (Unicamp), Faculdade de Ciências Médicas, Departamento de Pediatria, Campinas, SP, Brasil.

Background: Glycogen storage disease (GSD) type 1b is a multisystemic disease in which immune and infectious complications are present, in addition to the well-known metabolic manifestations of GSD. Treatment with granulocyte-colony stimulating factor (G-CSF) is often indicated in the management of neutropenia and inflammatory bowel disease.

Objective: To report on the demographics, genotype, clinical presentation, management, and complications of pediatric patients with glycogen storage disease type 1b (GSD 1b), with special attention to immune-related complications. Read More

Mol Genet Metab Rep 2021 Jun 23;27:100759. Epub 2021 Apr 23.

Inborn Errors of Metabolism Unit, Clinical Department of Pediatrics, ASST Santi Paolo e Carlo, San Paolo Hospital, University of Milan, Italy.

Background: COVID19 pandemic urged the need to take severe measures for reducing the epidemic spread. Lockdowns were imposed throughout countries and even Inborn errors of metabolism (IEMs) affected patients had to face it and adapt, with management strategies changes coming along. Phenylketonuria (PKU) is an inborn error of phenylalanine (Phe) metabolism causing, when not treated, blood Phe increases and consequent central nervous system (CNS) damage. Read More