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Summary
PSEUDONEONATAL ADRENOLEUKODYSTROPHY
PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY ACOX1
264470
OMIM = Online Medalian Inheritance of Men
2971
17q25.1
rare
autosomal recessive
symptoms
behavior, autism or autistic-like
dysmorphism
dysphagia
dystonia
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
retinitis pigmentosa
seizures
strabismus
laboratory finding
Very-long-chain fatty acids increasedserum
Very-long-chain fatty acid oxidation
Peroxisomes, liver
Peroxisomal Acyl-CoA oxidase
EEG abnormalities - ---
Literature
Bollee G,et al.Adenine phosphoribosyltransferase deficiencyClin J Am Soc Nephrol79121-15272012
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
Edvardsson VO,et al.Hereditary causes of kidney stones and chronic kidney diseasePediatr Nephrol28101923-19422013