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Summary
PSEUDONEONATAL ADRENOLEUKODYSTROPHY
PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY
264470
OMIM = Online Medalian Inheritance of Men
2971
17q25.1
rare
autosomal recessive
symptoms
behavior, autism or autistic-like
dysmorphism
hearing defect, deafness
hepatomegaly (large liver)
hypotonia
leukoencephalopathy
neurological deterioration
nystagmus
optic atrophy
retinitis pigmentosa
seizures
laboratory finding
Very-long-chain fatty acids increasedserum
Very-long-chain fatty acid oxidation
Peroxisomes, liver
Peroxisomal Acyl-CoA oxidase
Literature
Chen Y-TBurchell AGlycogen storage diseasesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.10935-9651995
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Chace DHet al.Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns blod spots by tandem mass spectrometryClin Chem423349-3551996
Steinberg SJFensom AH, Dalton NR, Toseland PA, Kennedy CR, Mowat APMeasurement of Plasma Very Long-Chain Fatty Acids as a Preliminary Screening Procedure for the Diagnosis of Peroxysomal DisordersJ Inher Metab Dis170323-3261994
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991