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Summary
PEROXISOME BIOGENESIS DISORDER 2B
ADRENOLEUKODYSTROPHY, NEONATAL
202370
OMIM = Online Medalian Inheritance of Men
44
12p13.31
  • docosahexaenoic acid
  • no specific treatment
  • phenylbutyrate
rare
autosomal dominant
symptoms
adrenal atrophy (autopsy)
blindness, visual loss, visual impairment
cataract
demyelinisation
dysmorphism
early death
epicanthus or medial eyelid fold
failure to thrive
feeding difficulties, poor feeding
hearing defect, deafness
infections (severe or recurrent)
low set ears
mental retardation
micropolygyria
neurological deterioration
onset, newborn
prominent forehead
seizures
laboratory finding
C26:01.006.000.100.60-Ág/mlplasma
C26:11.007.000.020.51-Ág/mlplasma
Phytanic acid20.0025.000.004.00-Ág/mlplasma
Pristanic acid 21.000.003.00-Ámol/lplasma
Adipic acid0.000.000.0020.00increasedurinenewborn
Suberic acid0.000.003.0014.00increasedurinenewborn
Sebacic acid 0.002.00increasedurine
Pimelic acid increasedurine
Azelaic acid 4.00increasedurine
Dihydroxycholestanoic acid 21.500.000.12+Ôé¼mol/lplasmano data
Trihydroxycholestanoic acid 6.200.000.03+Ôé¼mol/lplasmachild
MRI, brain, abnormalities -
Peroxisomes, liver
Plasmalogens, biosynthesis
Dihydroxyacetone-phosphate acyltransferase (DHAPAT)
Alkyl-dihydroxyacetone-phosphate synthase
Very-long-chain fatty acid oxidation
Phytanic acid oxidation
Pipecolic acid
Peroxisomal Acyl-CoA oxidase
Peroxisomal 3-oxoacyl-CoA thiolase
Peroxisomal bifunctional enzyme
Very-long-chain fatty acids increasedserum
EEG abnormalities -
Dicarboxylic acids0.000.00 increasedurineno data
Literature
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Okamoto YApolipoprotein C-II deficiencyNippon Rinsho59326-312001
Muller Tet al.Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genesGastroenterology11961506-15132000
Lund EStarck L, Venizelos NDetection of defective 3+ƒ-hydroxysterol delta7-reductase activity in cultured human fibroblasts: a method for the diagnosis of Smith-Lemli-Opitz syndromeJ Inherit Metab Dis19059-641996
McConkie-Rosell Aet al.Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage diseaseJ Inherit Metab Dis19051-581996
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Rossiter BJFCaskey CTHypoxanthine-guanine phosphoribosyltransferase deficiency: Lesch-Nyhan syndrome and goutThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.201679-17061995
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
de-Michele Get al.Childhood onset of Friedreich ataxia: a clinical and genetic study of 36 casesNeuropediatrics2713-71996
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Vazquez-Memije MEet al.Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndromeJ Inherit Metab Dis19043-501996