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eBook details

• Title: Isolated Mitochondrial Long-Chain Ketoacyl-Coa Thiolase Deficiency Resulting from Mutations in the HADHB Gene (Case Report)
• Author : Clinical Chemistry
• Release Date : January 01, 2006
• Genre: Chemistry,Books,Science & Nature,
• Pages : * pages
• Size : 198 KB

Description

The mitochondrial trifunctional protein (MTP) [4] is a multienzyme complex involved in the (3-oxidation of fatty acids with chain lengths of C12 to C18. It is a heterooctamer of 4 [alpha] subunits (McKusick #600890) and 4 [beta] subunits (McKusick #143450). The a subunits (HADHA) and the [beta] subunits (HADHB) are encoded by different nuclear genes, consisting of 20 and 16 exons, respectively. Both genes are located on chromosome 2p23 (1,2). The 3 enzymes involved are long-chain enoyl-CoA hydratase (LCEH), long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), and long-chain 3-ketoacyl-CoA thiolase (LCTH). The HADHB gene encodes the LCTH activity, whereas the HADHA gene contains the information for the other 2 enzymatic functions. The first step of the [beta]-oxidation cycle is catalyzed by acyl-CoA dehydrogenases, whereas the enzymes of MTP catalyze the last 3 steps of [beta]-oxidation. Two biochemical phenotypes of defects concerning the MTP complex have been described: isolated LCHAD deficiency and generalized MTP deficiency, with decreased activities of all 3 enzymes.

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