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Summary
D,L-2-HYDROXYGLUTARIC ACIDURIA
COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA D2L2AD DL2HGA
615182
OMIM = Online Medalian Inheritance of Men
356978
22q11.21
rare (<1:1000000)
autosoma recessive
symptoms
blindness, visual loss, visual impairment
cerebellar atrophy or hypoplasia
dystonia
early death
encephalopathy
feeding difficulties, poor feeding
hepatomegaly (large liver)
hypotonia
irritability
macrocephaly (large calvaria, >2 SD for age)
microcephaly
motor retardation
onset, newborn
respiratory insufficiency
seizures
stridor
laboratory finding
2-Hydroxyglutaric acid (D)0.000.00 increasedplasmanewborn
2-Hydroxyglutaric acid (L)0.000.00 increasedplasmanewborn
2-Oxoglutaric acid0.000.00 increasedurinenewborn
2-Hydroxyglutaric acid (D)0.000.00 increasedurinenewborn
2-Hydroxyglutaric acid (L)0.000.00 increasedurinenewborn
2-Hydroxyglutaric acid (D)0.000.00 increasedcerebrospinal fluidnewborn
2-Hydroxyglutaric acid (L)0.000.00 increasedcerebrospinal fluidnewborn
Literature
Karet FEet al.Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosisProc Natl Acad Sci U S A95116337-63421998
Shayakul CAlper SLDefects in processing and trafficking of the AE1 Cl-/HCO3- exchanger associated with inherited distal renal tubular acidosisClin Exp Nephrol811-112004
Toye AMDefective kidney anion-exchanger 1 (AE1, Band 3) trafficking in dominant distal renal tubular acidosis (dRTA).Biochem Soc Symp72047-632005
Cheidde Let al.A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosisPediatrics11201361-13672003