Lipoamide dehydrogenase deficiency

Isoleucine MSUD Lipoamide dehydrogenase deficiency Severe protein malnutrition... 

Barak, N., Huminer, D., Segal, T., Ben Ari, Z., Halevy, J., Tur Kaspa, R. Lipoamide dehydrogenase deficiency a newly discovered cause of acute hepatitis in adults. J. Hepatol. 1998 29 482-484... 

O. N. Elpeleg, W. Ruitenbeek, C. Jakobs, et al. Congenital lacticacidemia caused by lipoamide dehydrogenase deficiency with favorable outcome. Journal of Pediatrics 126,72 (1995). 

The early kinetic studies on glutathione reductase did not include investigation of product inhibition, so vital to a proper interpretation of kinetic data in the elucidation of the mechanism 2 7, 2 8). In the one case where product inhibition patterns were observed, they were not interpreted by more recent kinetic theory (40). Subsequent kinetic analyses see below), in which product inhibition patterns have been obtained, were either completed prior to the discovery of the EH2-NADPH complex 53) or have not considered it. Furthermore, the product inhibition patterns have been carried out at only a single level of the fixed substrate it is essential that the patterns be obtained at more than one level of fixed substrate, especially where dead end complexes are involved 249) as has been so amply demonstrated with lipoamide dehydrogenase 95, 157). In spite of these deficiencies, the more recent kinetic studies have yielded much useful information. 

The 2-ketoglutarate dehydrogenase (2-KGD) complex is composed of three separate enzymes 2-ketoglutarate decarboxylase, or El lipoate succi-nyltransferase, or E2 and lipoamide dehydrogenase, or E3. The complex catalyses the oxidation of 2-ketoglutarate to yield succinyl-CoA and NADH. 2-KGD deficiency together with pyruvate dehydrogenase deficiency and branched chain ketoacid decarboxylase deficiency has been ascribed to E3 deficiency because the three enzyme complexes have the E3 component in common. E3 deficiency will not be discussed. 

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