"Zellweger syndrome"

[Zellweger syndrome caused by PEX6 gene variation in 2 cases and literature review]. To summarize the clinical features and genetic characteristics of Zellweger spectrum disorder caused by PEX6 gene variation. This was a case series research. Clinical date and genetic results of 2 neonatal cases of Zellweger syndrome caused by PEX6 gene variation in Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science & Technology and Affiliated Hospital of Guangdong Medical University from July 2021 to July 2022 were retrospectively collected and analyzed. Literature up to August 2023 was searched from electronic databases of China National Knowledge Infrastructure (CNKI), Wanfang Data and PubMed with the combined keywords of "Zellweger syndrome" "Zellweger spectrum disorder

Insufficiency of ciliary cholesterol in hereditary Zellweger syndrome. Primary cilia are antenna-like organelles on the surface of most mammalian cells that receive sonic hedgehog (Shh) signaling in embryogenesis and carcinogenesis. Cellular cholesterol functions as a direct activator of a seven-transmembrane oncoprotein called Smoothened (Smo) and thereby induces Smo accumulation on the ciliary membrane where it transduces the Shh signal. However, how cholesterol is supplied to the ciliary membrane remains unclear. Here, we report that peroxisomes are essential for the transport of cholesterol into the ciliary membrane. Zellweger syndrome (ZS) is a peroxisome-deficient hereditary disorder with several ciliopathy-related features and cells from these patients showed a reduced cholesterol level

Super-resolution imaging reveals the sub-diffraction phenotype of Zellweger Syndrome ghosts and wild-type peroxisomes Peroxisomes are ubiquitous cell organelles involved in many metabolic and signaling functions. Their assembly requires peroxins, encoded by PEX genes. Mutations in PEX genes are the cause of Zellweger Syndrome spectrum (ZSS), a heterogeneous group of peroxisomal biogenesis

A clinical case of Zellweger syndrome in a patient with a previous history of ocular medulloepithelioma Peroxisomal biogenesis disorders (PBDs) are autosomal recessive diseases caused by mutations in one of the 14 PEX genes described in the scientific literature. All of these syndromes may be associated with different mutations in the PEX genes, the most frequent being PEX1 for patients with Zellweger syndrome (ZS). In this paper, we present the case of a patient with a peculiar clinical history: evisceration of the left eye (LE) at 4 years of age because of a benign ocular teratoid medulloepithelioma and a progressive loss of visual acuity (VA) in the right eye (RE) beginning at 9 years of age, leading to the diagnosis of ZS. In addition, the patient presented a mutation in the PEX14 gene

Zellweger syndrome: Depiction of MRI findings in early infancy at 3.0 Tesla Zellweger syndrome, also referred to as cerebrohepatorenal syndrome, is a rare autosomal recessive disease representing the most severe form of the peroxisomal biogenesis disorders. Neuroanatomical sequelae include impaired neuronal migration, diffuse hypomyelination, and sensorineural degeneration. Due to the rare and severe nature of this disorder, early mortality, and comorbidities that place the patient at risk for sedated imaging, high-resolution magnetic resonance imaging findings of Zellweger syndrome are scarce in the literature. Presented here is a case of this rare disease imaged at 3.0 Tesla.

Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections Peroxisome biogenesis disorders are related to a spectrum of genetic diseases that range from severe Zellweger syndrome to milder infantile Refsum disease. Zellweger syndrome is characterised by dysmorphic features, severe hypotonia, seizures, failure to thrive, liver dysfunction and skeletal defects . Increased levels of very long chain fatty acids are the biochemical hallmark and the most common mutations found in the PEX1 gene. We report an unusual presentation of Zellweger syndrome in a 2-month-old female infant with severe malnutrition, opportunistic infections, lymphopaenia and a small thymic shadow on chest radiography. With this clinical picture, an initial hypothesis of primary immunodeficiency

Child Neurology: Zellweger syndrome. Zellweger syndrome (ZS) is a severe manifestation of disease within the spectrum of peroxisome biogenesis disorders that includes neonatal adrenoleukodystrophy, infantile Refsum disease, and rhizomelic chondroplasia punctata. Patients with ZS present in the neonatal period with a characteristic phenotype of distinctive facial stigmata, pronounced hypotonia

A deleterious mutation in the PEX2 gene causes Zellweger Syndrome in individuals of Ashkenazi Jewish descent. Zellweger syndrome is known to be caused by numerous mutations that occur in at least 12 of the PEX genes. While phenotypes vary, many are severely debilitating, and death can result in affected newborns. Since the disease follows an autosomal recessive pattern of inheritance, carrier screening can be done for at-risk couples, but the number of potential mutations sites to screen can be daunting. Ethnicity-specific studies can help narrow this range by highlighting mutations that are present at higher percentages in certain populations. In this article, the carrier frequencies for two mutations causative of the severe Zellweger syndrome spectrum phenotype that occur in the PEX2 gene, c

DisclosuresNot disclosed. W. Carl Cooley, MDMedical Director Crotched Mountain Foundation Medical Director Center for Medical Home Improvement Adjunct Professor of Pediatrics Dartmouth Medical School Greenfield NH DisclosuresWCC declares that he has no competing interests. * * Differentials * Isolated hypotonia * Zellweger's syndrome * Congenital hypothyroidism More Differentials * Guidelines * Health

A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population. Zellweger syndrome (ZS) is a peroxisome biogenesis disorder due to mutations in any one of 13 PEX genes. Increased incidence of ZS has been suspected in French-Canadians of the Saguenay-Lac-St-Jean region (SLSJ) of Quebec, but this remains unsolved. We identified 5 ZS

Peroxisomal dysfunction interferes with odontogenesis and leads to developmentally delayed teeth and defects in distinct dental cells in Pex11b-deficient mice. Human peroxisomal biogenesis disorders of the Zellweger syndrome spectrum affect skeletal development and induce tooth malformations. Whereas several peroxisomal knockout mouse studies elucidated the pathogenesis of skeletal defects

The subset of peroxisomal tail-anchored proteins do not reach peroxisomes via ER, instead mitochondria can be involved. Peroxisomes are membrane-enclosed organelles with important roles in fatty acid breakdown, bile acid synthesis and biosynthesis of sterols and ether lipids. Defects in peroxisomes result in severe genetic diseases, such as Zellweger syndrome and neonatal adrenoleukodystrophy

FoundationMedical DirectorCenter for Medical Home ImprovementAdjunct Professor of PediatricsDartmouth Medical SchoolGreenfieldNHDisclosuresWCC declares that he has no competing interests. * * Differentials * Isolated hypotonia * Zellweger's syndrome * Congenital hypothyroidism More Differentials * Guidelines * Guidelines on thyroid disorder in children and young people with Down syndrome

: Consult pathologist.APPLICATION: Diagnosis of adrenoleukodystrophy, adrenomyeloneuropathy and some other peroxisomal disorders (eg, Zellweger syndrome).INTERPRETATION: Elevation of the ratio of C26 fatty acids or C24 fatty acids to C22 fatty acids indicates a defect in oxidation of very long chain fatty acids, an exclusively peroxisomal function. This occurs in genetic deficiencies of a specific enzyme in the oxidation pathway (eg, adrenoleukodystrophy), or generalised peroxisomal dysfunction (eg, Zellweger syndrome).The test is performed most conveniently on plasma, but cells (eg, cultured skin fibroblasts) can also be used and antenatal diagnosis can be performed on chorionic villus samples.Carriers of adrenoleukodystrophy (which is X-linked) usually show increased levels but the test is not 100

with PAX2-mediated CAKUT, and 1 each with autosomal recessive polycystic kidney disease (ARPKD), Dent, Frasier, Gordon, Gitelman, and Zellweger syndromes. Four of 18 LKDs were referred only for APOL1 screening. For the remaining 14 LKDs, their transplant candidates were first tested to establish a genetic diagnosis. Five LKDs tested negative for the familial genetic variant, four were positive

, 13]. Mitochondrial beta-oxidation of fatty acids is an essential energy-producing pathway which ensures energy production during periods of starvation or low calorie intake as would happen during any illness.Disorders of very long chain fatty acids (VLCFAs), which include disorders because of failure to form or maintain the peroxisome (eg, Zellweger's syndrome) or because of a defect