Zellweger Syndrome (Zellweger's Syndrome)

An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.

Also Known As:

Networked: 415 relevant articles (4 outcomes, 27 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Liver Diseases (Liver Disease)
2.	Refsum Disease (Refsum's Disease)
3.	Peroxisomal Disorders (Peroxisomal Disorder)
4.	Cerebrotendinous Xanthomatosis
5.	Hyperoxaluria

Experts

1.	Waterham, Hans R: 10 articles (10/2015 - 01/2002)
2.	Wanders, Ronald J A: 9 articles (04/2012 - 01/2002)
3.	Suzuki, Y: 8 articles (06/2008 - 01/2000)
4.	Shimozawa, N: 8 articles (06/2008 - 01/2000)
5.	Fujiki, Yukio: 7 articles (04/2014 - 05/2003)
6.	Kondo, N: 6 articles (07/2001 - 01/2000)
7.	Fujiki, Y: 6 articles (07/2001 - 01/2000)
8.	Baes, M: 5 articles (10/2001 - 01/2000)
9.	Wanders, R J: 5 articles (07/2001 - 03/2000)
10.	Shimozawa, Nobuyuki: 4 articles (12/2015 - 04/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Zellweger Syndrome:

1.	AcidsIBA 12/01/2015 - "An increased excretion of 3,6-epoxydicarboxylic acids leads to the diagnosis of Zellweger syndrome and a mutation analysis of PEX14 revealed a homozygous mutation of c.538C>T (p.Q180X). " 09/01/1989 - "The method was applied to separation and determination of 5 beta-cholestanoic acids in urine from a patient with Zellweger syndrome and from healthy volunteers." 06/15/1989 - "The metabolism of 1-11C-labelled derivatives of palmitic (C16:0), arachidonic (C20:4,n-6) lignoceric (C21:0) and tetracosatetraenoic (C24:4,n-6) acids was studied in normal skin fibroblast cultures and in cultures of fibroblasts from peroxisome-deficient (Zellweger's syndrome) patients. " 04/01/1989 - "Identification of (22R)-3 alpha,7 alpha,12 alpha,22- and (23R)-3 alpha,7 alpha,12 alpha,23-tetrahydroxy-5 beta-cholestanoic acids in urine from a patient with Zellweger's syndrome." 12/01/1987 - "Occurrence of both (25R)- and (25S)-3 alpha,7 alpha,12 alpha-trihydroxy-5 beta-cholestanoic acids in urine from an infant with Zellweger's syndrome."
2.	Bile Acids and Salts (Bile Acids)IBA 07/01/2005 - "This suggests this technique to become a valuable tool in studies dealing with the multi-step biosynthesis of bile acids and its disturbances in disorders like the Zellweger syndrome." 12/01/1985 - "In vivo and vitro studies on formation of bile acids in patients with Zellweger syndrome. " 04/01/1989 - "Thus, the chemical structure of two native bile acids present in urine from a patient with Zellweger's syndrome should be formulated as (22R)-3 alpha,7 alpha,12 alpha,22-tetrahydroxy-5 beta-cholestanoic acid and (23R)-3 alpha,7 alpha,12 alpha,12 alpha,23-tetrahydroxy-5 beta-cholestanoic acid, respectively." 12/01/1987 - "Urine from a patient with Zellweger's syndrome was examined for bile acids after fractionation into three groups according to mode of conjugation. " 05/01/1987 - "The pattern of bile acids in serum is useful for ruling out Zellweger's syndrome. "
3.	Fatty Acids (Saturated Fatty Acids)IBA 05/03/1984 - "The study of very-long-chain fatty acids provides a convenient method for the early diagnosis and prenatal detection of the Zellweger syndrome." 09/01/1999 - "The deuterated iso-VLCFA was degraded to the corresponding 16- and 18-carbon iso-fatty acids by rats in vivo and by normal human skin fibroblasts in culture, but there was little or no degradation in peroxisome-deficient (Zellweger's syndrome) fibroblasts, indicating that its oxidation was peroxisomal. " 01/01/1993 - "Diagnosis of Zellweger syndrome by analysis of very long-chain fatty acids in stored blood spots collected at neonatal screening." 04/01/1989 - "Besides a typical increase in the very long chain fatty acids 26:0 and 26:1 and a great reduction in the plasmalogen levels, confirming the diagnosis of Zellweger Syndrome, some striking changes in the polyunsaturated fatty acid patterns were discovered. " 04/01/1989 - "Very long fatty acids in amniotic fluid from a fetus affected with Zellweger syndrome."
4.	pipecolic acidIBA 06/19/1986 - "The clearance of L-pipecolic acid was 1.1 and 0.2 ml/min and of D-pipecolic acid was 36.4 and 43.6 ml/min. These results do not support the contention that the pipecolaturia of Zellweger syndrome is the direct result of peroxisomal deficiencies." 01/01/1980 - "Biochemical studies in the cerebro-hepato-renal syndrome of Zellweger: a disturbance in the metabolism of pipecolic acid." 10/01/1993 - "cerebralhepatorenyl (Zellweger) syndrome (CHRS) contained little D-pipecolic acid. " 05/01/1989 - "Thus, the high circulating levels of L-pipecolic acid in Zellweger syndrome probably result from defective peroxisomal oxidation of L-pipecolic acid to AAA." 05/01/1989 - "L-pipecolic acid oxidation in normal infant livers was low at birth and increased with age, but Zellweger syndrome livers showed little activity at any age. "
5.	Ethyl Ether (Ether)IBA 10/25/1984 - "These results support prior studies emphasizing the role of peroxisomes and the acyl DHAP pathway in cellular ether lipid synthesis, establish Zellweger syndrome cells as valuable for elucidating peroxisomal functions, and provide prenatal and postnatal diagnostic assays as well as potential therapeutic strategies for Zellweger syndrome." 06/01/2002 - "However, PEX11 beta deficiency differs significantly from Zellweger syndrome and Zellweger syndrome mice in that it is not characterized by a detectable defect in peroxisomal protein import and displays only mild defects in peroxisomal fatty acid beta-oxidation and peroxisomal ether lipid biosynthesis. " 01/01/1991 - "These observations suggest that little ether lipid biosynthesis occurs in vivo in rhizomelic chondrodysplasia punctata or Zellweger's syndrome. " 10/01/1998 - "In addition, disorders of peroxisomal biogenesis (Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease) and peroxisomal protein import (rhizomelic chondrodysplasia punctata) have impaired ether lipid synthesis along with other associated defects in peroxisomal metabolism. " 03/01/1988 - "The data have indicated that the average extent of the deficiency in glycero-ether bond formation is different in Zellweger syndrome, chondrodysplasia punctata, neonatal adrenoleukodystrophy, and infantile Refsum disease."
6.	Phytanic AcidIBA 06/30/1987 - "Age-related accumulation of phytanic acid in plasma from patients with the cerebro-hepato-renal (Zellweger) syndrome." 12/01/1986 - "Prenatal diagnosis of Zellweger syndrome and related disorders: impaired degradation of phytanic acid." 09/24/2015 - "Phytanic acid (Phyt) accumulates in various peroxisomal diseases including Refsum disease (RD) and Zellweger syndrome (ZS). " 05/01/1989 - "3. Analysis of phytanic acid showed that in patients with multiple impairments of peroxisomal functions (Zellweger syndrome, neonatal adrenoleukodystrophy) phytanic acid levels may be increased not only in serum, but also in the tissue (e.g. " 10/06/1994 - "alpha-Oxidation of the branched-chain fatty acid, phytanic acid, is defective in patients with Refsum's disease, the disorders of peroxisome biogenesis (e.g., Zellweger syndrome), and in rhizomelic chondrodysplasia punctata. "
7.	Acetyl-CoA C-Acyltransferase (beta Ketothiolase)IBA 03/01/1990 - "Immunofluorescent staining for peroxisomal beta-ketothiolase showed the immunoreactivity to be localized in subcellular particles in fibroblasts from both Zellweger syndrome and RCDP patients, even though the former lack normal peroxisomes. " 01/01/1999 - "VLCFA levels were increased in all patients homozygous for Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum's disease, and in patients with deficiencies of peroxisomal acyl-coenzyme A oxidase, bifunctional enzyme, and 3-oxoacyl-coenzyme A thiolase. " 05/01/1988 - "Patients with RCDP had three characteristic biochemical abnormalities: (1) profound defect in plasmalogen (ether lipid) synthesis, which is significantly greater than the analogous defect in Zellweger syndrome or neonatal ALD; (2) reduction of phytanic acid oxidation activity to 1% to 5% of control, similar to that observed in Refsum disease, Zellweger syndrome, and neonatal ALD; (3) presence of the unprocessed form of peroxisomal 3-oxoacyl-coenzyme A thiolase in the postmortem liver of two patients. " 03/01/1987 - "Very long chain fatty acids, which accumulate in plasma and tissues in X-linked adrenoleukodystrophy (ALD), neonatal ALD, and the Zellweger cerebrohepatorenal syndrome, are degraded by the peroxisomal beta-oxidation pathway, consisting of acyl-CoA oxidase, the bifunctional enoyl-CoA hydratase/3-hydroxyacyl-CoA dehydrogenase, and beta-ketothiolase. "
8.	Palmitic Acid (Hexadecanoic Acid)IBA 06/15/1989 - "Zellweger's syndrome fibroblasts showed a marked decrease in radiolabelled carbon dioxide and water-soluble-product formation from (I-14C)-labelled arachidonic, tetracosatetraenoic and lignoceric acids but not from [I-14C]palmitic acid, and the production of radiolabelled C14-18 fatty acids was also diminished. "
9.	Carbon DioxideIBA 06/15/1989 - "Zellweger's syndrome fibroblasts showed a marked decrease in radiolabelled carbon dioxide and water-soluble-product formation from (I-14C)-labelled arachidonic, tetracosatetraenoic and lignoceric acids but not from [I-14C]palmitic acid, and the production of radiolabelled C14-18 fatty acids was also diminished. "
10.	Proteins (Proteins, Gene)IBA 10/01/2001 - "To study the pathogenetic mechanisms causing organ dysfunctions in Zellweger syndrome, we have recently developed a knockout-mouse model by disrupting the PEX5 gene, encoding the targeting receptor for most peroxisomal matrix proteins (M Baes, P Gressens, E Baumgart, P Carmeliet, M Casteels, M Fransen, P Evrard, D Fahimi, PE Declercq, D Collen, PP van Veldhoven, GP Mannaerts: A mouse model for Zellweger syndrome. " 01/01/1990 - "Study of peroxisomal proteins in patients with Zellweger syndrome." 08/01/2003 - "Zellweger syndrome is the archetypical peroxisome biogenesis disorder and is characterized by defective import of proteins into the peroxisome, leading to peroxisomal metabolic dysfunction and widespread tissue pathology. " 09/01/2000 - "In patients with Zellweger disease, a lethal panperoxisomal disorder, and in mice lacking the Pxr1 import receptor for peroxisomal matrix proteins, the absence of peroxisomes leads to abnormal neuronal migration. " 03/06/2000 - "Zellweger syndrome shows decreased expression for the three proteins. "

Therapies and Procedures

1.	Nursing Care 09/14/1983 - "Nursing care study: Zellweger's syndrome." 02/01/2005 - "It highlights the presentation, clinical features, and nursing care of infants with Zellweger syndrome. "
2.	Lasers (Laser) 04/01/2000 - "Peroxisomal ghosts are intracellular structures distinct from lysosomal compartments in Zellweger syndrome: a confocal laser scanning microscopy study."
3.	Transplantation (Transplant Recipients) 01/01/1987 - "Because of their high concentrations of 7 alpha-hydroxylated compounds excreted, the CTX patients were clearly distinguished from all other groups except for a slight overlap with the patients with cerebro-hepato-renal syndrome and liver-transplant recipients. " 01/01/1987 - "We used a commercial enzymatic kit for measuring 7 alpha-hydroxylated bile acids to screen urines from normal subjects, liver-transplant recipients, and patients with various liver diseases, cerebro-hepato-renal syndrome, or cerebrotendinous xanthomatosis (CTX). "
4.	Sutures (Suture) 05/01/1986 - "The literature survey did provide criteria for classic Zellweger syndrome, which include hypotonia with or without deformation of limbs, large fontanels and split sutures, prominent forehead, flattened facial profile with hypoplastic supraorbital ridges, anteverted nares, highly arched palate, cryptorchidism or labial hypoplasia, hepatomegaly or elevated liver enzymes, peripheral pigmentation of the retina, renal cortical cysts, and characteristic neuropathology involving decreased myelinization, abnormal neuronal migration, and sudanophilic macrophages. " 05/01/1986 - "We describe the results of glycerol ether lipid supplementation to two children, one with classic Zellweger syndrome and 9% of control fibroblast dihydroxyacetone phosphate acyltransferase activity, and one with mild facial manifestations, wide sutures, hypotonia, developmental delay, hepatomegaly, peripheral retinal pigmentation, and 50% of control fibroblast dihydroxyacetone phosphate acyltransferase activity. "
5.	Anesthesia 03/01/2006 - "Anesthesia for the child with Zellweger syndrome: a case report."