Three new mutations of the pyruvate dehydrogenase alpha subunit: A point mutation (M181V), 3 bp deletion (-R282), and 16 bp insertion/frameshift (K358SVS→TVDQS)

Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1α deficiency

“…The diagnosis of PDH deficiency depends on the measurement of residual enzyme activity in fresh lymphocytes, lymphoblastoid cell lines, cultured skin fibroblasts or muscle tissue. At least 70 patients with PDH deficiency have been reported so far and 52 different mutations in the coding region of the Ε1α subunit have been described (Kerr et al 1988Endo et al 1989Endo et al , 1991Dahl et al 1990Dahl et al , 1992Chun et al 1991Chun et al , 1993Chun et al , 1995Hansen et al 1991Hansen et al , 1993Hansen et al , 1994De Meirleir et al 1992Ito et al 1992Ito et al , 1995Wexler et al 1992Wexler et al , 1995Matthews et al 1993Matthews et al a, b, 1994Takakubo et al 1993Takakubo et al a, b, 1995Awata et al 1994;Dahl and Brown 1994;Fujii et al 1994;Naito et al 1994a, b;Hemalatha et al 1995;Lissens et al 1995Lissens et al , 1996Matsuda et al 1995;Tripatara et al 1996). Two mutations in E3 have also been identified (Liu et al 1993) but, so far, no molecular mutations have been reported that specifically affect the E1β subunit, E2, component X or PDH-phosphatase.…”