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Summary
2-HYDROXYGLUTARIC ACIDURIA (D) TYPE I
D-2-HYDROXYGLUTARIC ACIDURIA 1 D2HGA1
600721
OMIM = Online Medalian Inheritance of Men
79315
2q37.3
  • no specific treatment
rare
autosomal recessive
biochemical variant of 2-hydroxyglutaric aciduria:
- L-2-hydroxyglutaric aciduria
- D-2-hydroxyglutaric aciduria
- combined D-2- and L-2-hydroxyglutaric aciduria
symptoms
alopecia
anemia
bleeding tendencies, hemorrhages
blindness, visual loss, visual impairment
corpus callosum, agenesis/hypoplasia
developmental delay
dysmorphism
hyperpigmentation
hypotonia
infantile spasms
irritability
macrocephaly (large calvaria, >2 SD for age)
mental retardation
metaphyseal dysplasia
onset, infancy
onset, neonatal
Organic acid, spinal fluid
Organic acids, plasma
Organic acids, urine
peripheral neuropathy
seizures
vomiting
laboratory finding
2-Hydroxyglutaric acid (D)730.001747.003.0017.00mmol/mol creatinineurine
2-Hydroxyglutaric acid (D)62.0073.000.300.90-Ámol/lplasma
2-Hydroxyglutaric acid (D) 25.000.100.30-Ámol/lcerebrospinal fluid
EEG abnormalities -
Thiamine pyrophosphate 50.00152.00normal/increasedurine
gamma-Aminobutyric acid 0.000.10increasedcerebrospinal fluid
MRI, brain, abnormalities -
Succinic acid0.000.00 increasedurineno data
Literature
Cohen IJet al.Effective treatment of painful bone crises in type I Gauchers disease with high dose prednisoloneArch Dis Child750218-2221996
Koch Jet al.Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification of the first molecular lesion causing Farber diseaseJ Biol Chem271033110-51996
Chhibber-Goel J,et al.The complex metabolism of trimethylamine in humans: endogenous and exogenous sourcesExpert Rev Mol Med18082016
Donohoue Pet al.Congenital adrenal hyperplasiaThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202929-29661995
Mayatepek EHoffmann GF, Larsson A, Becker K, Bremer HJ5-Oxoprolinase deficiency associated with severe psychomotor developmental delay, failure to thrive, microcephaly and microcytic anemiaJ Inher Metab Dis18083-841995
Fries MHet al.Isovaleric acidemia: response to a leucine load after three weeks supplementation with glycine, L-carnitine, and combined glycine-carnitine therapyJ Pediatr1290449-4521996
Assmann GSeedorf UAcid lipase deficiency: Wolman disease and cholesteryl ester storage disease The metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202563-25871995
Edery Pet al.Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patientsAm J Med Genet1202185-1902003
Tacke Uet al.Possible genotype-phenotype correlations in children with mild clinical course of Canavan diseaseNeuropediatrics364252-2552005
Donohoue Pet al.Congenital adrenal hyperplasiaThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202929-29661995
Philipson LHSteiner DFPas de deux or more: the sulfonylurea receptor and K+ channelsScience2680372-3731995
Owayed AClarke JTHyperphagia in patients with alpha-mannosidosis type IIJ Inherit Metab Dis205727-7281997
van Bever HPet al.Aspirin, Reye syndrome, Kawasaki disease, and allergies a reconsideration of the linksArch Dis Child891211782004
Widhalm KVirmani KLong-term follow-up of 58 patients with histidinemia treated with a histidine restricted diet: no effect of therapyPediatrics940861-8661994
Abe Tet al.Reye syndrome and drug induced encephalopathyRinsho Shinkeigaku4311873-8762003
Wittenstein Bet al.African medicine and Reyes syndromeLancet36308602004
Semenza GAuricchio SSmall-intestinal disaccharidasesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.304451-44801995
Whitington PFet al.Clinical and biochemical findings in progressive familial intrahepatic cholestasisJ Pediatr Gastroenterol Nutr182134-1411994
Chalmers RAet al.Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal deathJ Pediatr1310220-2251997
Costa-Santos Met al.Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiencyJ Clin Endocrinol Metab89149-602004
Kauppinen RMolecular diagnostics of acute intermittent porphyriaExpert Rev Mol Diagn42243-2492004
Roe CRCoates PMMitochondrial fatty acid oxidation disordersThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101501-15331995
Janson CGet al.Lithium citrate for Canavan diseasePediatr Neurol334235-2432005
Schmitt Set al.Diabetische FetopathieMonatschr Kinderheilk144079-861996
Bj++érkhem IBoberg KMInborn errors in bile acid biosynthesis and storage of sterols other than cholesterolThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202073-20991995
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Carlton VEKnisely AS, Freimer NBMapping of a locus for progressive familial intrahepatic cholestasis to 18q21-q22, the benign recurrent intrahepatic cholestasis regionHum Mol Genet461049-10531995
Palenchar JBCrocco JM, Colman RFThe characterization of mutant Bacillus subtilis adenylosuccinate lyases corresponding to severe human adenylosuccinate lyase deficienciesProtein Sci1281694-17052003