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Case Reports
. 2006 Apr;37(2):95-8.
doi: 10.1055/s-2006-923943.

Pitfall in metabolic screening in a patient with fatal peroxisomal beta-oxidation defect

H Rosewich  1 , H R Waterham, R J A Wanders, S Ferdinandusse, M Henneke, D Hunneman, J Gärtner
Affiliations
Case Reports

Pitfall in metabolic screening in a patient with fatal peroxisomal beta-oxidation defect

H Rosewich et al. Neuropediatrics. 2006 Apr.

Abstract

We present a rare case of peroxisomal acyl-CoA oxidase deficiency that was not detected by the common metabolic screening program for peroxisomal disorders. The patient presented with a typical MRI pattern showing pachygyria, perisylvian polymicrogyria, cerebral and cerebellar white matter abnormalities, and facial dysmorphia, progressive psychomotor retardation, deafness, retinopathy, peripheral neuropathy, and infantile seizures strongly indicative for a peroxisomal disorder. Yet, repetitive measurements of very long-chain fatty acids (VLCFAs) and phytanic acid in serum and plasma as well as plasmalogens in erythrocytes revealed normal values apparently excluding a peroxisomal defect (methods of measurement published by Moser and co-workers in 1980 [4 ] and 1981 [2 ]). Subsequent biochemical investigation in cultured skin fibroblasts of the patient, however, revealed elevated concentrations of VLCFAs, deficient oxidation of C26:0, but normal oxidation of both phytanic acid and pristanic acid and normal DE NOVO plasmalogen synthesis, indicative for a defect in the peroxisomal beta-oxidation system. Enzymatic studies in these fibroblasts pointed to peroxisomal acyl-CoA oxidase deficiency and subsequent molecular analyses revealed a homozygous acceptor splice site mutation IVS3-1G>A in the ACOX1 gene (MIM *609751).

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