Serum very long chain fatty acid pattern in Zellweger syndrome

Bakkeren, J. A. J. M.; Monnens, L.A.H.; Trijbels, J. M. F.; Maas, J.

doi:10.1016/0009-8981(84)90140-2

Cited by 49 publications

(19 citation statements)

References 17 publications

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“…Bile acids in serum were fractionated and quantitated by a gas chromatographic procedure [30]. Very long chain fatty acids (VLCFA) were fractionated and quantitated in serum and in cultured skin fibroblasts as described earlier [1,14]. Plasmalogen levels in erythrocytes were measured as described previously [20,21].…”

Section: Methodsmentioning

confidence: 99%

A milder variant of Zellweger syndrome

et al. 1985

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A 4.5-year-old male patient is described with chorioretinopathy, minor facial anomalies, delayed closure of the fontanel, mental retardation, moderate hypotonia, epilepsy and hepatic fibrosis. Postural control, intentional vocalising and manual dexterity were superior to the performance of patients with classical Zellweger syndrome (ZS). Morphologically distinct peroxisomes were absent in the liver. In blood elevated pipecolic acid levels and abnormal levels of bile acid intermediates were found. The plasmalogen content of erythrocytes was normal. In fibroblasts we found an accumulation of very long chain fatty acids, decreased activity of acyl CoA:dihydroxyacetone phosphate acyltransferase, and impaired de novo biosynthesis of plasmalogens. On the basis of these clinical, ultrastructural and biochemical characteristics we assume that this patient represents a milder variant of the classical cerebro-hepato-renal syndrome of Zellweger.

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Section: Methodsmentioning

confidence: 99%

A milder variant of Zellweger syndrome

et al. 1985

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“…These include specific findings related to: a) Metabolism of very long chain (> Cz2) fatty acids. Accumulation of very long chain fatty acids has been found in plasma, in cultured skin fibroblasts and amniotic fluid cells and in chorionic villus cells of Zellweger patients [3,4,66]; in plasma and fibroblasts in infantile Refsum disease [76,78], in hyperpipecolic acidaemia (A. E. Moser, unpublished observation), In addition, the results of pulse-labelling studies by our group indicate that although the precursors of acyl-CoA oxidase and 3-oxoacyl-CoA thiolase are formed normally in fibroblasts from Zellweger patients and infantile Refsum patients, their conversion to the mature forms of the enzymes is impaired and they are degraded instead [88]. These results suggest that functional peroxisomes are required fo r the maturation and stability of peroxisomal [3-oxidation enzymes.…”

Section: Ill Biochemical Characteristicsmentioning

confidence: 99%

Peroxisomal disorders: A newly recognised group of genetic diseases

et al. 1986

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“…These include theoxidation enzymes (7,9) and the first enzyme in the synthesis of plasmalogens, dihydroxyacetone phosphate acyltransferase (10,11). Very long chain fatty acids (C24, C26) accumulate (12,13) and plasmalogens are deficient (14); death usually occurs within the first year after birth, often within weeks or months.…”

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confidence: 99%

Presence of the peroxisomal 22-kDa integral membrane protein in the liver of a person lacking recognizable peroxisomes (Zellweger syndrome).

Lazarow¹,

Fujiki²,

Small³

et al. 1986

Proc. Natl. Acad. Sci. U.S.A.

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Peroxisomes have not been detected in liver and kidney of patients with Zellweger syndrome. Some peroxisome proteins are missing; others are present in normal amounts but are located in the cytosol. We have prepared an antiserum against the 22-kDa integral membrane protein characteristic of rat liver peroxisomes. The antiserum crossreacts with the human liver counterpart, which likewise has a mass of 22 kDa. By immunoblot analysis, we demonstrate that the 22-kDa protein is present in normal amount in Zellweger liver and is integral to a membrane. The result suggests that peroxisome membranes are assembled in Zellweger syndrome but may be defective for the import of matrix proteins. As a result, newly synthesized proteins are left in the cytosol, where some persist and others are degraded. Lacking their usual content, such aberrant peroxisomal membranes would be unrecognizable morphologically. Immunoblot analyses also showed that the peroxisomal hydratase-dehydrogenase is deficient in Zellweger kidney as well as liver, but catalase is present in both organs.

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Serum very long chain fatty acid pattern in Zellweger syndrome

Cited by 49 publications

References 17 publications

A milder variant of Zellweger syndrome

A milder variant of Zellweger syndrome

Peroxisomal disorders: A newly recognised group of genetic diseases

Presence of the peroxisomal 22-kDa integral membrane protein in the liver of a person lacking recognizable peroxisomes (Zellweger syndrome).

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