Visit Metagene.de!
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
mutation in the SLC25A1 gene
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 (<2 SD for age)
motor retardation
onset, infancy
onset, neonatal
respiratory insufficiency
seizures
stridor
laboratory finding
2-Oxoglutaric acid increasedurine
2-Hydroxyglutaric acid (D)0.000.00 increasedplasmanewborn
2-Hydroxyglutaric acid (L)0.000.00 increasedplasmanewborn
2-Hydroxyglutaric acid (D)0.000.00 mmol/mol creatinineurinenewborn
2-Hydroxyglutaric acid (L)0.000.00 mmol/mol creatinineurinenewborn
2-Hydroxyglutaric acid (D)0.000.00 increasedcerebrospinal fluidnewborn
2-Hydroxyglutaric acid (L)0.000.00 increasedcerebrospinal fluidnewborn
Literature
Wamelink MM,et al.4-Hydroxybutyric aciduria associated with catheter usage: a diagnostic pitfall in the identification of SSADH deficiencyMol Genet Metab1022216-2172011
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
Atwal PS,et al.Nineteen-year follow-up of a patient with severe glutathione synthetase deficiencyJ Hum Genet617669-6712016
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