Isolated Mitochondrial Long-Chain Ketoacyl-CoA Thiolase Deficiency Resulting from Mutations in the HADHB Gene | Zendy

Anibh M. Das | Zendy; Sabine Illsinger | Zendy; Thomas Lücke | Zendy; Hans Hartmann | Zendy; Jos P.N. Ruiter | Zendy; Ulrike Steuerwald | Zendy; Hans R. Waterham | Zendy; Marinus Durán | Zendy; Ronald J. A. Wanders | Zendy

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Isolated Mitochondrial Long-Chain Ketoacyl-CoA Thiolase Deficiency Resulting from Mutations in the HADHB Gene

Author(s) -

Anibh M. Das,

Sabine Illsinger,

Thomas Lücke,

Hans Hartmann,

Jos P.N. Ruiter,

Ulrike Steuerwald,

Hans R. Waterham,

Marinus Durán,

Ronald J. A. Wanders

Publication year - 2006

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2005.062000

Subject(s) - thiolase , biochemistry , carnitine , biology , acyl coa dehydrogenase , microbiology and biotechnology , gene , dehydrogenase , compound heterozygosity , mutation , enzyme , chemistry

The human mitochondrial trifunctional protein (MTP) complex is composed of 4 hydroacyl-CoA dehydrogenase-alpha (HADHA) and 4 hydroacyl-CoA dehydrogenase-beta (HADHB) subunits, which catalyze the last 3 steps in the fatty acid beta-oxidation spiral of long-chain fatty acids. The HADHB gene encodes long-chain ketoacyl-CoA thiolase (LCTH) activity, whereas the HADHA gene contains the information for the long-chain enoyl-CoA hydratase and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) functions. At present, 2 different biochemical phenotypes of defects in the mitochondrial trifunctional protein complex are known: isolated LCHAD deficiency and generalized MTP deficiency, with decreased activities of all 3 enzymes. Isolated LCTH deficiency with mutations in the HADHB gene has not been reported.

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