| PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) | |
| ZELLWEGER SYNDROME | |
|
214100
OMIM = Online Mendelian Inheritance of Men | |
|
912 | |
| Peroxisome biogenesis factor 1 | |
| rare (1:25000 - 1:50000) autosomal recessive mutation in the PEX1 gene 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] | |
| Laboratory findings | C26:0/C22:0 inc (plasma) 2-Hydroxysebacic acid inc (urine) 3-Hydroxysebacic acid inc (urine) 8-iso-prostaglandin F2alpha inc (urine) Adipic acid inc (urine) Alkyl-dihydroxyacetone-phosphate synthase () Azelaic acid inc (urine) Bile acid intermediates inc (plasma) C24:0/C22:0 inc (plasma) C26:0 inc (fibroblasts) C26:0 inc (plasma) C26:0/C22:0 inc (fibroblasts) Dicarboxylic acids inc (urine) Dihydroxyacetone-phosphate acyltransferase (DHAPAT) dec (platelets) Dihydroxyacetone-phosphate acyltransferase (DHAPAT) dec (fibroblasts) Hexacosenoic acid C26:1 inc (plasma) Iron inc (serum) Peroxisomal 3-oxoacyl-CoA thiolase () Peroxisomal Acyl-CoA oxidase () Peroxisomal bifunctional enzyme () Phytanic acid inc (plasma) Phytanic acid oxidation dec (fibroblasts) Pimelic acid inc (urine) Pipecolic acid inc (plasma) Pipecolic acid inc (urine) Pristanic acid normal/inc (serum) Sebacic acid inc (urine) Suberic acid inc (urine) Transaminases (ASAT/ALAT) normal/inc (serum) Very-long-chain fatty acid oxidation () Very-long-chain fatty acids inc (serum) |
| Symptoms | brain malformation buphthalmus cataract cholestasis cirrhosis or fibrosis of liver clitoral hypertrophy clubfoot congenital heart defect cryptorchism dysmorphism early death EEG abnormalities [-] epicanthus or medial eyelid fold epiphyseal and periarticular calcific stippling 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 liver involvement or dysfunction low set ears mental retardation motor retardation MRI, brain, abnormalities [-] MRI, brain, white matter abnormalities [-] nystagmus onset, childhood onset, infancy onset, neonatal osteoporosis Peroxisomes, liver Plasmalogens, biosynthesis polycystic kidneys ptosis (drooping eyelid) pulmonary hypoplasia 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 white matter changes, abnormalities |