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Summary
2-HYDROXYGLUTARIC ACIDURIA (D) TYPE II
D-2-HYDROXYGLUTARIC ACIDURIA 2 D2HGA2
613657
OMIM = Online Medalian Inheritance of Men
79315
15q26.1
  • no specific treatment
rare (<1:1000000)
autosomal dominant / autosomal recessive (?)
heterozygous mutations in the mitochondrial isocitrate dehydrogenase-2 gene
biochemical variants of 2-hydroxyglutaric aciduria: - L-2-hydroxyglutaric aciduria - D-2-hydroxyglutaric aciduria - combined D-2- and L-2-hydroxyglutaric aciduria
symptoms
cardiomegaly
cardiomyopathy
dysmorphism
hypotonia
no clinical signs or symptoms
onset, child
onset, infant
seizures
speech development, delayed, abnormal
laboratory finding
2-Hydroxyglutaric acid (D)0.000.00 increasedurinechild
2-Hydroxyglutaric acid (D) increasedplasma
2-Hydroxyglutaric acid (D) increasedspinal fluid
Literature
Owayed AClarke JTHyperphagia in patients with alpha-mannosidosis type IIJ Inherit Metab Dis205727-7281997
Toye AMBanting G, Tanner MJRegions of human kidney anion exchanger 1 (kAE1) required for basolateral targeting of kAE1 in polarised kidney cells: mis-targeting explains dominant renal tubular acidosis (dRTA)J Cell Sci11781399-14102004