D,L-2-hydroxyglutaric aciduria

Orpha code: 356978OMIM code: 615182

Definition

A rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites.

Disease data
Classification

Disease

Synonyms
Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia
D,L-2-HGA
Kwasica D,L-2-hydroksyglutarowa
Złożona acyduria D-2-hydroksyglutarowa i L-2-hydroksyglutarowa
Złożona kwasica D-2-hydroksyglutarowa i L-2-hydroksyglutarowa
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria
D,L-2-HGA
D,L-2-hydroxyglutaric acidemia
ORPHA code
356978
OMIM code
615182
ICD10 code
E72.8
ICD11 code
-

No additional description.

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