A new type of peroxisomal disorder with variable expression in liver and fibroblasts

We describe two siblings, presently 5 and 9 years of age, who had neurodegenerative symptoms after the first year of life. Although they lacked clinical characteristics of a peroxisomal disorder, they had elevated levels of plasma very long chain fatty acids, pipecolic and phytanic acids, and abnorm...

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Bibliographic Details
Published in:	The Journal of pediatrics Vol. 125; no. 4; pp. 549 - 555
Main Authors:	Mandel, Hanna, Espeel, Marck, Roels, Frank, Sofer, Neomi, Luder, Anthony, Iancu, Theodore C., Aizin, Anna, Berant, Moshe, Wanders, Ronald J.A., Schutgens, Ruud B.H.
Format:	Journal Article
Language:	English
Published:	New York, NY Mosby, Inc 01-10-1994 Elsevier Mosby-Year Book, Inc
Subjects:	Biological and medical sciences Child Child, Preschool Errors of metabolism Fatty Acids - metabolism Fibroblasts - metabolism Fibroblasts - ultrastructure Humans Lipids (lysosomal enzyme disorders, storage diseases) Liver - metabolism Liver - pathology Liver - ultrastructure Male Medical sciences Metabolic diseases Metabolism, Inborn Errors - metabolism Metabolism, Inborn Errors - pathology Microbodies - metabolism Microbodies - pathology Microbodies - physiology Microscopy, Electron Psychomotor Performance DHAPAT EM CoA VLCFA Human Immunohistochemistry Nervous system diseases Family study Liver Clinical form Metabolic diseases Sibling Enzymopathy Fatty acids Genetic disease Pathology Symptomatology Peroxisomal disorders Degenerative disease Child Lipoidosis
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Summary:	We describe two siblings, presently 5 and 9 years of age, who had neurodegenerative symptoms after the first year of life. Although they lacked clinical characteristics of a peroxisomal disorder, they had elevated levels of plasma very long chain fatty acids, pipecolic and phytanic acids, and abnormal bile acid intermediates, which suggested a generalized peroxisome deficiency disorder. Immunocytochemical study and electron microscopy of the liver disclosed absence of peroxisomes in approximately 90% of hepatocytes. However, the remaining 10% of the hepatocytes had numerous normal-looking peroxisomes containing catalase activity and catalase antigen. Alanine glyoxylate aminotransferase and the peroxisomal β-oxidation enzymes acyl-coenzyme A oxidase and 3-ketoacyl coenzyme A thiolase were also present in the organelles. Both cell types were grouped in clusters. In contrast to most of the liver cells, fibroblasts cultured from skin biopsy specimens had normal peroxisomal functions. Thus this defect in peroxisome biogenesis is characterized by variable expression in different tissues (liver vs fibroblasts), as well as within individual cells in the same tissue (liver mosaicism). Awareness of the heterogeneity in tissue expression of peroxisomal disorders could be of critical importance in prenatal diagnosis. (J P EDIATR 1994;125:549-55)
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0022-3476 1097-6833
DOI:	10.1016/S0022-3476(94)70006-0