Article
First prenatal diagnosis of defects in the HsPDX1 gene encoding protein X, an additional lipoyl-containing subunit of the human pyruvate dehydrogenase complex.
Prenatal diagnosis - 1 Dec 1999
Rouillac C, Aral B, Fouque F, Marchant D, Saudubray J M, Dumez Y, Lindsay G, Abitbol M, Dufier J L, Marsac C, Benelli C
Abstract excerpt
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 gene, located on chromosome 11p1.3. The pathology of the patient was considered to arise from a large homozygous...
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