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PSEUDONEONATAL ADRENOLEUKODYSTROPHY

PSEUDONEONATAL ADRENOLEUKODYSTROPHY
PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY; ACOX1
264470
OMIM = Online Mendelian Inheritance of Men
2971
Peroxisomal acyl-coenzyme A oxidase 1 (ACOX1)
1.3.3.6
17q25.1
E71.3
rare (>20 cases)
autosomal recessive
Laboratory findings    Peroxisomal Acyl-CoA oxidase ()
    Very-long-chain fatty acid oxidation ()
    Very-long-chain fatty acids inc (serum)
Symptoms    behavior, autism or autistic-like
    clubfoot
    dysmorphism
    dysphagia
    dystonia
    EEG abnormalities [-]
    epiphyseal and periarticular calcific stippling
    hearing defect, deafness
    hepatomegaly (large liver)
    hypertonia, spasticity
    hypotonia
    inverted nipples
    irritability
    leukoencephalopathy
    liver involvement or dysfunction
    low set ears
    mental retardation
    neurological deterioration
    nystagmus
    onset, infancy
    optic atrophy
    Peroxisomes, liver
    retinitis pigmentosa
    seizures
    strabismus