Article
Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
Human mutation - 1 Jan 2000
Lissens W, De Meirleir L, Seneca S, Liebaers I, Brown G K, Brown R M, Ito M, Naito E, Kuroda Y, Kerr D S, Wexler I D, Patel M S, Robinson B H, Seyda A
Abstract excerpt
Defects in the pyruvate dehydrogenase (PDH) complex are an important cause of primary lactic acidosis, a frequent manifestation of metabolic disease in children. Clinical symptoms can vary considerably in patients with PDH complex deficiencies, and almost equal numbers of affected males and females have been identified, suggesting an autosomal recessive mode of inheritance of the disease. However, the great...
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