A NEW PEROXISOMAL DISORDER WITH ENLARGED PEROXISOMES AND A SPECIFIC DEFICIENCY OF ACYL-COA OXIDASE (PSEUDO NEONATAL ADRENOLEUKODYSTROPHY)
- 1 March 1988
- journal article
- research article
- Vol. 42 (3), 422-434
Abstract
In the present paper two siblings are presented with clinical manifestations very similar to those of patients affected by neonatal adrenoleukodystrophy. In contrast to neonatal adrenoleukodystrophy patients, hepatic peroxisomes in these siblings were enlarged in size and not decreased in number. Accumulation of very-long-chain fatty acids (VLCFA) was associated with an isolated deficiency of the fatty acid-CoA oxidase, the enzyme that catalyzes the first step of the peroxisomal .beta.-oxidation. Plasma levels of di- and trihydroxy coprostanoic acid, phytanic acid, and pipecolic acid were normal; furthermore, acyl-CoA:dihydroxyacetone phosphate acyltransferase activity in cultured fibroblasts was also found to be normal. The clinical, biochemical, and cytochemical features found in these two siblings are compared with those seen in two other disorders characterized by the absence of a decreased number of hepatic peroxisomes and the presence of VLCFA: (1) psdueo-Zellweger syndrome (deficiency of peroxisomal thiolase activity) (2) X-linked childhood adrenoleukodystrophy (deficiency of activation of lignoceric acid). Review of the different biochemical defects possible in very-long-chain fatty-acid oxidation reveals different clinical pictures of varying severity, depending on the level at which the biochemical defect occurs.This publication has 29 references indexed in Scilit:
- Acid β‐mannosidase of human plasma: Influence of age and sex on enzyme activityJournal of Inherited Metabolic Disease, 1986
- Myopathy in an infant with a fatal peroxisomal disorderPediatric Neurology, 1986
- Genetic Relation between the Zellweger Syndrome, Infantile Refsum's Disease, and Rhizomelic Chondrodysplasia PunctataNew England Journal of Medicine, 1986
- Lignoceroyl‐CoASH ligase: enzyme defect in fatty acid β‐oxidation system in X‐linked childhood adrenoleukodystrophyFEBS Letters, 1986
- Pseudo-Zellweger syndrome: Deficiencies in several peroxisomal oxidative activitiesThe Journal of Pediatrics, 1986
- The cerebro‐hepato‐renal (Zellweger) syndrome: Prenatal detection based on impaired biosynthesis of plasmalogensPrenatal Diagnosis, 1985
- Infantile Refsum's disease: Biochemical findings suggesting multiple peroxisomal dysfunctionJournal of Inherited Metabolic Disease, 1985
- Peroxisomal β-oxidation enzyme proteins in the Zellweger syndromeBiochemical and Biophysical Research Communications, 1985
- The Cerebrohepatorenal (Zellweger) SyndromeNew England Journal of Medicine, 1984
- Cytochemistry of human catalase. The demonstration of hepatic and renal peroxisomes by a high temperature procedure.Journal of Histochemistry & Cytochemistry, 1979