3-methylglutaconic aciduria type 1

Orpha code: 67046OMIM code: 250950

Definition

3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.

Disease data
Classification

Disease

Synonyms
3-methylglutaconyl-CoA hydratase deficiency
MGA typu 1
Niedobór hydratazy 3-metyloglutakonylo-CoA
Niedobór hydratazy 3MG-CoA
3MG-CoA hydratase deficiency
MGA1
ORPHA code
67046
OMIM code
250950
ICD10 code
E71.1
ICD11 code
-

No additional description.

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