Zellweger syndrome


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Zellweger syndrome

 [zel´weg-er]
an autosomal recessive inborn error of metabolism characterized by a prominent forehead, large anterior fontanelle, poor muscle tone, hepatomegaly, polycystic kidneys, jaundice, and often calcifications in the cartilaginous ends of long bones. Most affected children die in early infancy. Called also cerebrohepatorenal syndrome. See illustration.
A, Facies of an infant with Zellweger syndrome showing a prominent forehead. B, Radiography of the knee of a newborn infant with Zellweger syndrome showing abnormal punctate calcification of the distal femoral epiphyses. From Mueller and Young, 2001.

Zell·we·ger syn·drome

(zel'weg-ĕr),
a metabolic disorder with neonatal onset, characterized by distinctive facies, muscular hypotonia, hepatomegaly with jaundice, renal cysts, epiphyseal stippling of the patellae, cerebral dysmyelination, and neuronal migration defects and psychomotor retardation; there is a perturbation in peroxisomal biogenesis; autosomal recessive inheritance, caused by mutation in any one of several peroxin (PEX) genes on chromosome 6, 7, 8, or 12.

Zell·we·ger syn·drome

(zel'weg-ĕr),
a metabolic disorder with neonatal onset, characterized by distinctive facies, muscular hypotonia, hepatomegaly with jaundice, renal cysts, epiphyseal stippling of the patellae, cerebral dysmyelination, and neuronal migration defects and psychomotor retardation; there is a perturbation in peroxisomal biogenesis; autosomal recessive inheritance, caused by mutation in any one of several peroxin (PEX) genes on chromosome 6, 7, 8, or 12.

PEX1

A gene on chromosome 7q21.2 that encodes peroxin-1, a protein of the AAA ATPase family, which have various cell functions. This cytoplasmic protein forms heteromeric complexes with the peroxisomal membrane, where it plays a role in peroxisome biogenesis and in importing proteins into peroxisomes.

Molecular pathology
PEX1 mutations are associated with complementation group 1 peroxisomal disorders—e.g., neonatal adrenoleukodystrophy, infantile Refsum disease, Zellweger syndrome.

Zellweger syndrome

Cerebrohepatorenal syndrome An AR disease characterized by defective peroxisomes, due to inability to import matrix proteins Clinical Profound neurologic impairment–seizures, flaccidity, metabolic dysfunction, hyoid bone and thyroid cartilage calcification, dolichocephaly, persistent wormian bones, hand and foot deformities and bone immaturity, facial dysmorphia, cataracts, contractures, renal cortical cysts, liver fibrosis, death in early infancy

Zellweger,

Hans U., U.S. pediatrician, 1909-1990.
Fanconi-Albertini-Zellweger syndrome - see under Fanconi
Zellweger syndrome - Synonym(s): cerebrohepatorenal syndrome
References in periodicals archive ?
2000) PEX3 is the causal gene responsible for peroxisome membrane assembly-defective Zellweger syndrome of complementation group G.
1992) Animal cell mutants represent two complementation groups of peroxisome-defective Zellweger syndrome.
1992) A human gene responsible for Zellweger syndrome that affects peroxisome assembly.
1998) Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I.
1999) Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly.
1998) Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.
1998) Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease.
Other conditions that present with RHPD are Goldston and Zellweger syndromes, several chondrodysplasias, some chromosomal aberrations, such as trisomy 9 and 13, and glutaric aciduria type II.