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Mutations in the X-linked pyruvate dehydrogenase (E1) α subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency
✍ Scribed by Willy Lissens; Linda De Meirleir; Sara Seneca; Inge Liebaers; Garry K. Brown; Ruth M. Brown; Michinori Ito; Etsuo Naito; Yasuhiro Kuroda; Douglas S. Kerr; Isaiah D. Wexler; Mulchand S. Patel; Brian H. Robinson; Agnieszka Seyda
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 290 KB
- Volume
- 15
- Category
- Article
- ISSN
- 1059-7794
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✦ Synopsis
Communicated by
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We have previously reported a genetic study of a neonatal lactic acidosis linked to a pyruvate dehydrogenase complex deficiency due to the absence of the protein X subunit. This rare autosomal recessive disorder is associated with specific deletions in this polypeptide which is encoded by the HsPDX1
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