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Summary
GLUT-1 DEFICIENCY SYNDROME GLUT1DS1
GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER
606777
OMIM = Online Medalian Inheritance of Men
71277
1p34.2
  • ketogenic diet
rare
autosomal dominant
autosomal recessive (rare)
symptoms
ataxia
chorea or athetosis
dysarthria
dystonia
epilepsy
eye movements, abnormal
hyperreflexia
hypoglycorrachia
hypotonia
learning disability
lethargy, drowsiness, malaise or sleep disorder
mental retardation
microcephaly (<2 SD for age)
myoclonus
onset, infancy
paraparesis/paraplegia
seizures
skeletal changes, skeletal abnormalities
laboratory finding
Glucose 3.305.50normalserum
EEG abnormalities -
L-Lactic acid 0.502.10low-to-normalcerebrospinal fluid
Glucose decreasedcerebrospinal fluid
Glucose0.000.00 increasedurineno data
Literature
Thorburn DRMitochondrial disorders: prevalence, myths and advancesJ Inherit Metab Dis270349-3622004
Miller WLStAR Search - What We Know About How the Steroidogenic Acute Regulatory Protein Mediates Mitochondrial Cholesterol ImportMol Endocrinol002006
Lachman RSSkeletal dysplasiasin Hooshang Taybi, RS Lachman Radiology of syndromes, metabolic disorders, and skeletal dysplasias 4th. edition, Mosby Year book, Inc.00475-9511996
New Author000
Al-Harbi T,Al-Shaikh AApparent mineralocorticoid excess syndrome: report of one family with three affected childrenJ Pediatr Endocrinol Metab2501083-10882012
Brown-Harrison MCet al.Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathyBiochem Mol Med58059-651996
Sathya A,Ganesan R, Kumar ACongenital adrenal hyperplasia masquerading as periodic paralysis in an adolescent girlSingapore Med J530148-1492012
Tein Iet al.Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathyPed Res280247-2551990
Sugita Ket al.Clinical and MRI findings in a case of D-2-hydroxyglutaric aciduriaBrain Dev170139-1411995
Gibson KMet al.Stable isotope dilution analysis of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis od D- and L-2-hydroxyglutaric acidemiasPediatr Res340277-2801993
Clarke RAet al.Glycerol kinase deficiency and adrenal hypoplasia congenitaJ Inherit Metab Dis2006091997
Parini Ret al.Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiencyEur J Pediatr1570992-9951998
Pind Set al.V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzymeJ Biol Chem27797136-71432001
Lachman RSSkeletal dysplasiasin Hooshang Taybi, RS Lachman Radiology of syndromes, metabolic disorders, and skeletal dysplasias 4th. edition, Mosby Year book, Inc.00475-9511996
Ogilvie Iet al.Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuriaNeurology440467-4731994
Shin YSGalactose Metabolites and Disorders of Galactose MetabolismTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00267-2831991
Bonnefont JPet al.The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states Eur J Pediatr150080-851990
Mongia A,et al.Role of 11+ƒHSD type 2 enzyme activity in essential hypertension and children with chronic kidney disease (CKD)J Clin Endocrinol Metab9703622-36292012
Jaeken JGenetic disorders of gamma-aminobutyric acid, glycine, and serine as causes of epilepsyJ Child Neurol3084-872002
Byers PHDisorders of collagen biosynthesis and structureThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.31344029-40771995
Parto Ket al.Osteoporosis in lysinuric protein intoleranceJ Inherit Metab Dis160441-4501993
Walter JHet al.Recommendations for the management of galactosemiaArch Dis Child80093-961999
Zhang M,et al.A prevalent and three novel mutations in CYP11B1 gene identified in Chinese patients with 11-beta hydroxylase deficiencyJ Steroid Biochem Mol Biol133025-292013