Isovaleriansyremi
Engelsk navn: Isovaleric acidemia
Engelske synonym: Isovaleric acid CoA dehydrogenase deficiency
Definisjon
A rare, autosomal recessive, organic aciduria that is characterized by variable clinical presentation ranging from acute neonatal onset of metabolic decompensation to later onset of chronic, non-specific manifestations including failure to thrive and/or developmental delay. All patients are prone to intermittent, acute metabolic decompensation. During metabolic episodes, urine analysis demonstrates elevated isovaleric acid derivatives.
Fra Orphanet
ORPHA: 33
Klassifiseringsnivå: Disorder
ICD-10: E71.1
Mer informasjon
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