ZELLWEGER SYNDROME

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Disease	ZELLWEGER SYNDROME
Synonym	CEREBROHEPATORENAL SYNDROME; CEREBRO-HEPATO-RENAL SYNDROME
OMIM	214100 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	multiple peroxisomal enzymes
Gene locus	2p15, Chr.1, 7q21-q22, 6q23-q24
genetests.org	search search on genetest.org by MIM 214100 search search on genetest.org by ZELLWEGER+SYNDROME 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
Summary	1:25000 - 1:50000 autosomal recessive disorders of peroxisome biogenesis: Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease, hyperpipecolic acidemia, combined incidence 1:25000 - 1:50000 dicarboxylic aciduria may be very mild and of minor diagnostic value prenatal diagnosis: amniocytes, chorionic villous fibroblasts, amniotic fluid Zellweger-like manifestations [Ahn JK et al. 2003]
Clinical symptoms	birthweight low (small for gestational age) buphthalmus cataract cholestasis cirrhosis or fibrosis of liver clitoral hypertrophy congenital heart defect cryptorchism dysmorphism early death epicanthus or medial eyelid fold feeding difficulties, poor feeding glaucoma high arched palate high forehead hyporeflexia hypotonia large liver large mid-face (broad, prominent) liver failure low set ears mental retardation motor retardation nystagmus onset, newborn osteoporosis ptosis (drooping eyelid) renal cysts retinitis pigmentosa round facies (moon-face, broad) seizures shortened gestation time
Abnormal Findings in fibroblasts	C26:0 Normal: 0.05-0.21 µg/mg \| Significant : 0.30-0.84 µg/ml C26:0/C22:0 Normal: 0.02-0.13 no unit \| Significant : 0.29-0.80 no unit Dihydroxyacetone-phosphate acyltransferase Normal: 1.60-3.40 nmol/2h/mg protein \| Significant : 0.10-0.50 nmol/2h/mg protein Phytanic acid oxidation Normal: 5.30-18.80 % oxidized \| Significant : 0.10-0.50 % oxidized Plasmalogen, biosynthesis Normal: 0.40-0.80 3H/14C \| Significant : 1.40-34.20 3H/14C
Abnormal Findings in plasma	Bile acid intermediates \| Significant : - increased C24:0/C22:0 Normal: 0.50-0.90 no unit \| Significant : 1.30-2.10 no unit C26:0 Normal: 0.10-0.60 µg/ml \| Significant : 1.90-3.50 µg/ml C26:0/C22:0 Normal: 0.01-0.02 no unit \| Significant : 0.20-0.80 no unit C26:1 Normal: 0.02-0.51 µg/ml \| Significant : 2.10-5.80 µg/ml Phytanic acid Normal: 0.00-3.10 µg/ml \| Significant : 5.00-180.00 µg/ml Pipecolic acid Normal: 0.80-5.30 µmol/l \| Significant : 5.90-30.00 µmol/l
Abnormal Findings in platelets	Dihydroxyacetone-phosphate acyltransferase Normal: 2.20-4.90 nmol/2h/mg protein \| Significant : 0.00-1.10 nmol/2h/mg protein
Abnormal Findings in serum	Iron Normal: 50.00-100.00 µg/dl \| Significant : - increased Transaminases Normal: 10.00-30.00 U/l \| Significant : 30.00-2000.00 U/l Very-long-chain fatty acids \| Significant : - increased
Abnormal Findings in urine	12-Hydroxy-eicosatetraenoic acid Normal: 0.00-0.50 pg/ml \| Significant : 17.00-36.00 pg/ml 15-Hydroxy-eicosatetraenoic acid Normal: 0.00-0.50 pg/ml \| Significant : 29.00-61.00 pg/ml 8-iso-prostaglandin F2alpha Normal: 0.35-0.67 ng/mg creatinine \| Significant : - increased Adipic acid Normal: 0.10-19.90 mmol/mol creatinine \| Significant : - increased Azelaic acid \| Significant : - increased Dicarboxylic acids \| Significant : - increased Pimelic acid \| Significant : - increased Pipecolic acid Normal: 13.90-44.70 µmol/g creatinine \| Significant : 75.00-800.00 µmol/g creatinine 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	no specific treatment
Literature	There are 16 publications available. Click here to open the relevant ZELLWEGER SYNDROME publications