Visit Metagene.de!
Summary
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
ZELLWEGER SYNDROME
214100
OMIM = Online Medalian Inheritance of Men
912
7q21.2
  • no specific treatment
rare (1:250.00 - 1:50.000)
autosomal recessive
Peroxisome biogenesis disorders
in the Zellweger spectrum (PBD-ZSD) are a heterogeneous group of genetic disorders caused by mutations in PEX genes responsible for normal peroxisome assembly and functions [Braverman NE 2016]
symptoms
buphthalmus
cataract
cholestasis
cirrhosis or fibrosis of liver
clitoral hypertrophy
congenital heart defect
cryptorchism
dysmorphism
early death
epicanthus or medial eyelid fold
failure to thrive
feeding difficulties, poor feeding
glaucoma
hepatomegaly (large liver)
high arched palate
high forehead
hydronephrosis
hyporeflexia
hypospadia
hypotonia
large mid-face (broad, prominent)
liver failure
low set ears
lung hypoplasia
mental retardation
motor retardation
nystagmus
onset, neonatal
osteoporosis
ptosis (drooping eyelid)
renal cysts
retinitis pigmentosa
round facies (moon-face, broad)
seizures
shortened gestation time
small for gestational age (SGA), intrauterine growth retardation (IUGR)
valvular heart disease
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
Frydman Met al.Alpers progressive infantile neuronal poliodystrophy: an acute neonatal form with findings of the fetal akinesia syndromeAm J Med Genet47131-361993
Kollberg G,et al.A novel homozygous RRM2B missense mutation in association with severe mtDNA depletionNeuromuscul Disord192147-1502009
Dreznik Y,et al.Mitochondrial neuro-gastrointestinal encephalomyopathy presenting with recurrent bowel perforations and intra-abdominal abscessesJ Gastrointest Surg18112054-20562014
Bellet Het al.Cystinylglycinuria: a new neurometabolic disorder?J Inherit Metab Dis223231-2341999
Danpure CJPurdue PEPrimary hyperoxaluriaThe Metabolic and Molecular Bases of Inherited Disease on CD-ROM The McGraw-Hill Companies001997
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Kalkan IH,et al.Spontaneous abdominal esophageal perforation in a patient with mitochondrial neurogastrointestinal encephalomyopathyActa Clin Belg70144-452015
Halter JP,et al.Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathyBrain138102847-28582015
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Bourdon A,et al.Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletionNat Genet396776-7802007
Habib GMet al.Leukotriene D4 and cystinyl-bis-glycine metabolism in membrane-bound dipeptidase-deficient miceProc Natl Acad Sci U S A9594859-48631998
Shneider BLNeonatal liver failureCurr Opin Pediatr80495-5011996
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Andersson HCet al.Desmosterolosis presenting with multiple congenital anomalies and profound developmental delayAm J Med Genet1130315-3192002
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
Saudubray JM,Specola N, Middleton B, Lombes A, Bonnefont JP, Jacobs C, Vassault A, Charpentier CHyperketotic states due to inherited defects of ketolysis4th International congress of inborn errors of metabolism001986
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