A sibship with a mild variant of Zellweger syndrome

P. G. Barth, R. B H Schutgens, R. J A Wanders, H. S A Heymans, Ann B. Moser, H. W. Moser, E. M. Bleeker-Wagemakers, K. Jansonius-Schultheiss, M. Derix, G. F. Nelck

Research output: Contribution to journalArticle

Abstract

A mild variant of Zellweger (cerebro-hepato-renal) syndrome was diagnosed in male and female siblings aged 7 and 2 years. They had mild facial dysmorphia, moderate psychomotor retardation, tapetoretinal degeneration, sensorineural deafness and hepatomegaly. Ultrastructural examination of a liver biopsy in the younger patient revealed the absence of recognizable peroxisomes. In both patients plasma levels of pipecolic acid, phytanic acid, trihydroxycoprostanoic acid and dihydroxycoprostanoic acid were elevated. The very long chain fatty acid C26:0 and the C26:0/C22:0 fatty acid ratio were elevated in plasma, but less than in classical Zellweger syndrome. In cultured fibroblasts, deficient acyl-CoA:dihydroxyacetone phosphate acyltransferase and increased concentrations of C26:0 as well as C26:1 very long chain fatty acids were found within the ranges previously established for patients with classical Zellweger syndrome. Particle-bound catalase was absent in fibroblasts. Despite the relatively mild clinical expression the biochemical abnormalities found in these patients are the result of a general peroxisomal dysfunction similar to the changes in classical Zellweger syndrome.

Original languageEnglish (US)
Pages (from-to)253-259
Number of pages7
JournalJournal of Inherited Metabolic Disease
Volume10
Issue number3
DOIs
StatePublished - Sep 1987

Fingerprint

Zellweger Syndrome
Fatty Acids
glycerone-phosphate O-acyltransferase
Phytanic Acid
Fibroblasts
Peroxisomal Disorders
Acids
Peroxisomes
Retinitis Pigmentosa
Hepatomegaly
Deafness
Catalase
Siblings
Biopsy
Liver

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

Cite this

Barth, P. G., Schutgens, R. B. H., Wanders, R. J. A., Heymans, H. S. A., Moser, A. B., Moser, H. W., ... Nelck, G. F. (1987). A sibship with a mild variant of Zellweger syndrome. Journal of Inherited Metabolic Disease, 10(3), 253-259. https://doi.org/10.1007/BF01800071

A sibship with a mild variant of Zellweger syndrome. / Barth, P. G.; Schutgens, R. B H; Wanders, R. J A; Heymans, H. S A; Moser, Ann B.; Moser, H. W.; Bleeker-Wagemakers, E. M.; Jansonius-Schultheiss, K.; Derix, M.; Nelck, G. F.

In: Journal of Inherited Metabolic Disease, Vol. 10, No. 3, 09.1987, p. 253-259.

Research output: Contribution to journalArticle

Barth, PG, Schutgens, RBH, Wanders, RJA, Heymans, HSA, Moser, AB, Moser, HW, Bleeker-Wagemakers, EM, Jansonius-Schultheiss, K, Derix, M & Nelck, GF 1987, 'A sibship with a mild variant of Zellweger syndrome', Journal of Inherited Metabolic Disease, vol. 10, no. 3, pp. 253-259. https://doi.org/10.1007/BF01800071
Barth PG, Schutgens RBH, Wanders RJA, Heymans HSA, Moser AB, Moser HW et al. A sibship with a mild variant of Zellweger syndrome. Journal of Inherited Metabolic Disease. 1987 Sep;10(3):253-259. https://doi.org/10.1007/BF01800071
Barth, P. G. ; Schutgens, R. B H ; Wanders, R. J A ; Heymans, H. S A ; Moser, Ann B. ; Moser, H. W. ; Bleeker-Wagemakers, E. M. ; Jansonius-Schultheiss, K. ; Derix, M. ; Nelck, G. F. / A sibship with a mild variant of Zellweger syndrome. In: Journal of Inherited Metabolic Disease. 1987 ; Vol. 10, No. 3. pp. 253-259.
@article{22bc6851c26245929b5c95306e8cd7d3,
title = "A sibship with a mild variant of Zellweger syndrome",
abstract = "A mild variant of Zellweger (cerebro-hepato-renal) syndrome was diagnosed in male and female siblings aged 7 and 2 years. They had mild facial dysmorphia, moderate psychomotor retardation, tapetoretinal degeneration, sensorineural deafness and hepatomegaly. Ultrastructural examination of a liver biopsy in the younger patient revealed the absence of recognizable peroxisomes. In both patients plasma levels of pipecolic acid, phytanic acid, trihydroxycoprostanoic acid and dihydroxycoprostanoic acid were elevated. The very long chain fatty acid C26:0 and the C26:0/C22:0 fatty acid ratio were elevated in plasma, but less than in classical Zellweger syndrome. In cultured fibroblasts, deficient acyl-CoA:dihydroxyacetone phosphate acyltransferase and increased concentrations of C26:0 as well as C26:1 very long chain fatty acids were found within the ranges previously established for patients with classical Zellweger syndrome. Particle-bound catalase was absent in fibroblasts. Despite the relatively mild clinical expression the biochemical abnormalities found in these patients are the result of a general peroxisomal dysfunction similar to the changes in classical Zellweger syndrome.",
author = "Barth, {P. G.} and Schutgens, {R. B H} and Wanders, {R. J A} and Heymans, {H. S A} and Moser, {Ann B.} and Moser, {H. W.} and Bleeker-Wagemakers, {E. M.} and K. Jansonius-Schultheiss and M. Derix and Nelck, {G. F.}",
year = "1987",
month = "9",
doi = "10.1007/BF01800071",
language = "English (US)",
volume = "10",
pages = "253--259",
journal = "Journal of Inherited Metabolic Disease",
issn = "0141-8955",
publisher = "Springer Netherlands",
number = "3",

}

TY - JOUR

T1 - A sibship with a mild variant of Zellweger syndrome

AU - Barth, P. G.

AU - Schutgens, R. B H

AU - Wanders, R. J A

AU - Heymans, H. S A

AU - Moser, Ann B.

AU - Moser, H. W.

AU - Bleeker-Wagemakers, E. M.

AU - Jansonius-Schultheiss, K.

AU - Derix, M.

AU - Nelck, G. F.

PY - 1987/9

Y1 - 1987/9

N2 - A mild variant of Zellweger (cerebro-hepato-renal) syndrome was diagnosed in male and female siblings aged 7 and 2 years. They had mild facial dysmorphia, moderate psychomotor retardation, tapetoretinal degeneration, sensorineural deafness and hepatomegaly. Ultrastructural examination of a liver biopsy in the younger patient revealed the absence of recognizable peroxisomes. In both patients plasma levels of pipecolic acid, phytanic acid, trihydroxycoprostanoic acid and dihydroxycoprostanoic acid were elevated. The very long chain fatty acid C26:0 and the C26:0/C22:0 fatty acid ratio were elevated in plasma, but less than in classical Zellweger syndrome. In cultured fibroblasts, deficient acyl-CoA:dihydroxyacetone phosphate acyltransferase and increased concentrations of C26:0 as well as C26:1 very long chain fatty acids were found within the ranges previously established for patients with classical Zellweger syndrome. Particle-bound catalase was absent in fibroblasts. Despite the relatively mild clinical expression the biochemical abnormalities found in these patients are the result of a general peroxisomal dysfunction similar to the changes in classical Zellweger syndrome.

AB - A mild variant of Zellweger (cerebro-hepato-renal) syndrome was diagnosed in male and female siblings aged 7 and 2 years. They had mild facial dysmorphia, moderate psychomotor retardation, tapetoretinal degeneration, sensorineural deafness and hepatomegaly. Ultrastructural examination of a liver biopsy in the younger patient revealed the absence of recognizable peroxisomes. In both patients plasma levels of pipecolic acid, phytanic acid, trihydroxycoprostanoic acid and dihydroxycoprostanoic acid were elevated. The very long chain fatty acid C26:0 and the C26:0/C22:0 fatty acid ratio were elevated in plasma, but less than in classical Zellweger syndrome. In cultured fibroblasts, deficient acyl-CoA:dihydroxyacetone phosphate acyltransferase and increased concentrations of C26:0 as well as C26:1 very long chain fatty acids were found within the ranges previously established for patients with classical Zellweger syndrome. Particle-bound catalase was absent in fibroblasts. Despite the relatively mild clinical expression the biochemical abnormalities found in these patients are the result of a general peroxisomal dysfunction similar to the changes in classical Zellweger syndrome.

UR - http://www.scopus.com/inward/record.url?scp=17044460862&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=17044460862&partnerID=8YFLogxK

U2 - 10.1007/BF01800071

DO - 10.1007/BF01800071

M3 - Article

VL - 10

SP - 253

EP - 259

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

SN - 0141-8955

IS - 3

ER -