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Peroxisomal acyl‐CoA‐oxidase deficiency: Two new cases
Author(s) -
Carrozzo Rosalba,
Bellini Carlo,
Lucioli Simona,
Deodato Federica,
Cassandrini Denise,
Cassanello Michela,
Caruso Ubaldo,
Rizzo Cristiano,
Rizza Teresa,
Napolitano Matteo L.,
Wanders Ronald J.A.,
Jakobs Cornelis,
Bruno Claudio,
Santorelli Filippo M.,
DionisiVici Carlo,
Bonioli Eugenio
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32298
Subject(s) - phytanic acid , peroxisome , peroxisomal disorder , compound heterozygosity , exon , acyl coa , plasmalogen , zellweger syndrome , mutation , oxidase test , biochemistry , endocrinology , biology , chemistry , medicine , gene , enzyme , phospholipid , membrane
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 13 (c.1729_1935del (p.G577_E645del). © 2008 Wiley‐Liss, Inc.