Peroxisomal acyl-CoA-oxidase deficiency: Two new cases

Rosalba Carrozzo, Carlo Bellini, Simona Lucioli, Federica Deodato, Denise Cassandrini, Michela Cassanello, Ubaldo Caruso, Cristiano Rizzo, Teresa Rizza, Matteo L. Napolitano, R. J A Wanders, Cornelis Jakobs, Claudio Bruno, Filippo M. Santorelli, Carlo Dionisi-Vici, Eugenio Bonioli

Research output: Contribution to journalArticlepeer-review

Abstract

We report on two new patients with straight-chain acyl-coenzyme A oxidase deficiency. Early onset hypotonia, seizures and psychomotor delay were observed in both cases. Plasma very-long-chain fatty acids were abnormal in both patients, whereas the plasma levels of phytanic acid, pristanic acid, the bile acid intermediates DHCA and THCA, and erythrocyte plasmalogen levels were normal. Studies in fibroblasts from the two patients revealed a deficiency of one of the two peroxisomal acyl-CoA oxidases, that is, straight-chain acyl-CoA oxidase (ACOX1). Subsequent molecular analysis of ACOX1 showed a homozygous deletion, which removes a large part of intron 3 and exons 4-14 in the first patient. Mutation analysis in the second patient revealed compound heterozygosity for two mutations, including: (1) a c.692 G > T (p.G231V) mutation and (2) skipping of exon f3 (c.1729_1935del (p.G577_E645del).

Original languageEnglish
Pages (from-to)1676-1681
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume146
Issue number13
DOIs
Publication statusPublished - Jul 1 2008

Keywords

  • β-oxidation
  • Acyl-CoA oxidase deficiency
  • Fatty acids
  • Peroxisomes

ASJC Scopus subject areas

  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Peroxisomal acyl-CoA-oxidase deficiency: Two new cases'. Together they form a unique fingerprint.

Cite this