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GENATLAS PHENOTYPE
last update : 8/10/2006
Symbol PBE
Location 3q26.3-q28
Name Zellweger-like syndrome
Corresponding gene EHHADH
Main clinical features
  • severe hypotonia, seizures, mental retardation, elevated very long chain fatty acids branched chain FA and bile-acid intermediates but structurally intact peroxisomes
    • Genetic determination
    Related entries . including rare forms with normal level of bile acid intermediates and an isolated defect in the enoyl-CoA hydratase domain
    Function/system disorder metabolism/peroxisomal
    Type disease
    Gene product
    Name peroxisomal bifunctional enzyme (EHHADH), D-bifunctional protein (DBP)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     in tho cases,N457 missense mutation located in the enoyl-CoA hydratase domain