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GENATLAS PHENOTYPE
last update : 28/02/07
Symbol ACAD8D
Location 11q25
Name Acyl-CoA dehydrogenase deficiency, member 8
Other name(s) isobutyryl-CoA dehydrogenase deficiency
Corresponding gene ACAD8
Other symbol(s) IBDH
Main clinical features
  • patients with an abnormal pattern of metabolites in their urine, pauci symptomatic, failure to thrive, anemia and dilated cardiomyopathy
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/aminoacids
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function Arg302Gln sustitution in a single patient