Multiple acyl-CoA dehydrogenase deficiency

Orpha code: 26791OMIM code: 231680

Definicja

Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid and amino acid oxidation and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.

Disease data
Klasyfikacja

Disease

Synonimy
Glutaric acidemia type 2
MADD
Niedobór MAD
Kwasica glutarowa typu 2
Acyduria glutarowa typu 2
Glutaric aciduria type 2
MAD deficiency
MADD
Kod ORPHA
26791
Kod OMIM
231680
Kod ICD10
E71.3
Kod ICD11
-

No additional description.

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