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Disease	ADRENOLEUKODYSTROPHY, NEONATAL
Synonym	ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM; NALD
OMIM	202370 Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes OMIM = Online Medalian Inheritance of Men
Orphanet	Short summery, also for non professionals on www.orpha.net
Enzyme	peroxisome biogenesis disorders due to defects in at least 11 distinct genes
Gene locus	2p15, Chr.1, 12p13.3, 7q21-q22
genetests.org	search search on genetest.org by MIM 202370 search search on genetest.org by ADRENOLEUKODYSTROPHY Testing - View a listing of laboratories that provide clinical testing for this disorder Research - View a listing of laboratories that provide testing on a research basis only. Reviews - Read the GeneReview for this disorder Resources - View and print relevant consume
Summary	rare autosomal dominant
Clinical symptoms	adrenal atrophy (autopsy) cataract demyelinisation dysmorphism early death epicanthus or medial eyelid fold failure to thrive feeding difficulties, poor feeding infections (severe or recurrent) low set ears mental retardation micropolygyria neurological deterioration onset, newborn prominent forehead seizures
Abnormal Findings in plasma	C26:0 Normal: 0.10-0.60 µg/ml \| Significant : 1.00-6.00 µg/ml C26:1 Normal: 0.02-0.51 µg/ml \| Significant : 1.00-7.00 µg/ml Dihydroxycholestanoic acid Normal: 0.00-0.12 µmol/l \| Significant : -21.50 µmol/l Phytanic acid Normal: 0.00-4.00 µg/ml \| Significant : 20.00-25.00 µg/ml Pristanic acid Normal: 0.00-3.00 µmol/l \| Significant : -21.00 µmol/l Trihydroxycholestanoic acid Normal: 0.00-0.03 µmol/l \| Significant : -6.20 µmol/l
Abnormal Findings in serum	Very-long-chain fatty acids \| Significant : - increased
Abnormal Findings in urine	Adipic acid Normal: 0.10-19.90 mmol/mol creatinine \| Significant : - increased Azelaic acid Normal: -4.00 mmol/mol creatinine \| Significant : - increased Dicarboxylic acids \| Significant : - increased Pimelic acid \| Significant : - increased Sebacic acid Normal: 0.00-2.00 mmol/mol creatinine \| Significant : - increased Suberic acid Normal: 3.40-14.00 mmol/mol creatinine \| Significant : - increased
Treatment	docosahexaenoic acid no specific treatment phenylbutyrate
Literature	There are 13 publications available. Click here to open the relevant ADRENOLEUKODYSTROPHY, NEONATAL publications