A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1

In a patient with fatal neonatal lactic acidosis due to pyruvate dehydrogenase deficiency, the only potential mutation detected was c.888C>G in PDHA1, the gene for the E1α subunit of the complex. This would result in a substitution of glutamate for aspartate (D296E). Pathogenicity of this minor a...

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Veröffentlicht in:	Human mutation 2003-12, Vol.22 (6), p.496-497
Hauptverfasser:	Brown, R.M., Head, R.A., Boubriak, I.I., Leonard, J.V., Brown, G.K.
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Substitution - genetics Aspartic Acid - genetics Catalytic Domain - genetics DNA Mutational Analysis DNA, Complementary - chemistry DNA, Complementary - genetics Fatal Outcome Female Fibroblasts - enzymology Fibroblasts - metabolism Glutamic Acid - genetics Humans Infant, Newborn Male Models, Molecular Mutation PDH PDHA1 Pyruvate Dehydrogenase (Lipoamide) - chemistry Pyruvate Dehydrogenase (Lipoamide) - genetics Pyruvate Dehydrogenase (Lipoamide) - metabolism Pyruvate Dehydrogenase Complex Deficiency Disease - genetics Pyruvate Dehydrogenase Complex Deficiency Disease - pathology pyruvate dehydrogenase deficiency structure
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