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Summary
PEROXISOMAL DISORDERS, NEW TYPE, LIVER

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • no specific treatment
case report: 2 siblings, 5 and 9 years absence of peroxysomes in approx. 90% of hepatocytes variable expression in liver and fibroblasts prenatal diagnosis: amniocytes (?) chorionic villous fibroblasts (?) amniotic fluid (!)
symptoms
athetosis
hearing defect, deafness
hypotonia
mental retardation
nystagmus
onset, child
progressive neurologic defect
retinitis pigmentosa
strabismus
laboratory finding
C26:00.800.830.100.60-Ág/mlplasma
C26:0/C22:00.070.080.010.02no unitplasma
C24:0/C22:01.261.320.500.90no unitplasma
Pipecolic acid30.0047.000.805.30-Ág/mlplasma
Phytanic acid8.309.600.004.00-Ág/mlplasma
Pristanic acid 0.003.00not detectedplasma
Bile acid intermediates increasedplasma
CT, brain, abnormalities -
Peroxisomes, liver
Very-long-chain fatty acids increasedserum
Literature