Pyruvate dehydrogenase E1-alpha deficiency
Engelsk navn: Pyruvate dehydrogenase E1-alpha deficiency
Engelske synonym: PDHAD,Pyruvate decarboxylase deficiency,Pyruvate dehydrogenase complex E1 component subunit alpha deficiency
Definisjon
A disorder that is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.
Fra Orphanet
ORPHA: 79243
Klassifiseringsnivå: Subtype of disorder
ICD-10: E74.4
Mer informasjon
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