Zellweger Syndrome
From Anvita Health Wiki
Contents |
Epidemiology
- rare
Pathology
- absence of peroxisomes
- decreased plasmalogens
- increase in very long chain fatty acids (C-24 & C-26)
- increase in cholestanoic acid derivatives ( bile acid precursors)
- abnormalities of the liver, kidney, brain & skeletal system
- defective import mechanisms for peroxisomal matrix enzymes
Genetics
Clinical-manifestations
- dysmorphic facial features
- ocular abnormalities
- renal cysts
- hearing impairment
- psychomotor retardation ( mental retardation)
- severe hypotonia
- areflexia
- neonatal seizures
- failure to thrive
- hypertelorism
- cubitus valgus
- camptodactyly
- metatarsus adductus
- talipes equinovarus
- cryptorchidism
- apnea
- jaundice
- hepatomegaly
Complications
- in the severe form, death by age 12 months
More General Terms
- lipid metabolism, inborn error (lipid storage disease)
- peroxisomal biogenesis disorder
- leukodystrophy
- liver disease
- disease/disorder primarily affecting brain
- kidney disease; renal disease
Additional Terms
- ATP-binding cassette sub-family D member 3 (70 kD peroxisomal membrane protein, ABCD3, PMP70, PXMP1)
- peroxisome assembly factor 1; PAF-1; peroxin-2; peroxisomal membrane protein 3; 35 kD peroxisomal membrane protein; RING finger protein 72 (PXMP3, PAF1, PEX2, PMP3, PMP35, RNF72)
Internet Database
OMIM: 214100
OMIM: 170995
OMIM: 170993
References
- Textbook of Biochemistry with Clinical Correlations, 3rd ed., TM Devlin (ed), Wiley-Liss, NY 1992 pg 21
- NINDS Zellweger Syndrome Information Page [1]
