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Summary
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
ZELLWEGER SYNDROME
214100
OMIM = Online Medalian Inheritance of Men
912
7q21.2
  • no specific treatment
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]
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
hepatomegaly (large liver)
high arched palate
high forehead
hyporeflexia
hypotonia
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
laboratory finding
Iron 50.00100.00increasedserum
C26:12.105.800.020.51-Ág/mlplasma
C24:0/C22:01.302.100.500.90no unitplasma
Dihydroxyacetone-phosphate acyltransferase (DHAPAT)0.100.501.603.40nmol/2h/mg proteinfibroblasts
Phytanic acid oxidation0.100.505.3018.80% oxidizedfibroblasts
C26:0/C22:00.290.800.020.13no unitfibroblasts
C26:00.300.840.050.21-Ág/mlfibroblasts
C26:01.903.500.100.60-Ág/mlplasma
C26:0/C22:00.200.800.010.02no unitplasma
Phytanic acid5.00180.000.003.10-Ág/mlplasma
Pipecolic acid75.00800.0013.9044.70+Ôé¼mol/g creatinineurinenewborn
Plasmalogens, biosynthesis1.4034.200.400.803H/14Cfibroblasts
Pipecolic acid5.9030.000.805.30-Ámol/lplasma
Transaminases30.002000.0010.0030.00U/lserum
Bile acid intermediates increasedplasma
Adipic acid0.000.000.0020.00increasedurinenewborn
Sebacic acid 0.002.00increasedurine
Azelaic acid0.000.00 increasedurineno data
Pimelic acid0.000.00 increasedurineno data
Suberic acid0.000.003.0014.00increasedurinenewborn
Dihydroxyacetone-phosphate acyltransferase (DHAPAT)0.001.102.204.90nmol/2h/mg proteinplatelets
12-Hydroxy-eicosatetraenoic acid17.0036.000.000.50pg/mlurine
15-Hydroxy-eicosatetraenoic acid29.0061.00 pg/mlurine
MRI, brain, abnormalities -
EEG abnormalities -
Alkyl-dihydroxyacetone-phosphate synthase
Peroxisomes, liver
Very-long-chain fatty acid oxidation
Peroxisomal Acyl-CoA oxidase
Peroxisomal 3-oxoacyl-CoA thiolase
Peroxisomal bifunctional enzyme
Very-long-chain fatty acids increasedserum
Dicarboxylic acids0.000.00 increasedurineno data
8-iso-prostaglandin F2alpha0.000.000.001.00increasedurineno data
2-Hydroxysebacic acid0.000.00 increasedurineno data
3-Hydroxysebacic acid0.000.00 increasedurineno data
Literature
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Bellet Het al.Cystinylglycinuria: a new neurometabolic disorder?J Inherit Metab Dis223231-2341999
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Habib GMet al.Leukotriene D4 and cystinyl-bis-glycine metabolism in membrane-bound dipeptidase-deficient miceProc Natl Acad Sci U S A9594859-48631998
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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
Holzgreve Wet al.Investigation of nonimmune hydrops fetalisAm J Obstet Gynecol1500805-8121984
van Acker KJet al.Hyperoxaluria with hyperglycoluria not due to alanine:glyoxylate aminotransferase defect: a novel type of primary hyperoxaluriaKidney Int5001747-17521996
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Waterham HRet al.Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesisAm J Hum Genet694685-6942001