PMID: 8598634Jan 1, 1995Paper

DNA diagnosis of pyruvate dehydrogenase deficiency in female patients with congenital lactic acidaemia

Journal of Inherited Metabolic Disease
J MatsudaY Kuroda

Abstract

The diagnosis of pyruvate dehydrogenase (PDH) E1 alpha deficiency, which is an X-linked inborn error of metabolism, is usually established by the measurement of PDH complex activity in cultured cells. However, heterozygous female patients with PDH E1 alpha deficiency may be misdiagnosed when the normal X chromosome is predominantly expressed in the cultured cells. Therefore, in female patients with convincing clinical presentations of PDH E1 alpha deficiency and the normal enzyme activity, the X-inactivation pattern should be analysed and the PDH E1 alpha gene screened for mutations. For this screening, we applied the method of single-strand conformational polymorphism (SSCP) and DNA sequencing and examined 11 female patients with congenital lactic acidaemia whose PDH complex activity was normal in cultured cells. In 2 of the 11 female patients, we found distinct pathogenic missense mutations in the PDH E1 alpha gene (G89S and G291R). Both affected patients showed a similar clinical presentation and had been diagnosed as West syndrome. In 3 of the 11 patients, we found a polymorphic base-pair substitution in exon 9 of the PDH E1 alpha gene which resulted in a changed amino acid residue (M282L). We conclude that PCR-SSCP analysi...Continue Reading

References

Jan 1, 1992·Journal of Inherited Metabolic Disease·G K Brown
Feb 1, 1989·The Biochemical Journal·S J Yeaman
May 11, 1989·Nucleic Acids Research·A HaliassosA Kitzis
Mar 1, 1993·Journal of Medical Genetics·R M Brown, G K Brown
May 1, 1993·Pediatric Neurology·L De MeirleirI Liebaers
Oct 20, 1993·Biochimica Et Biophysica Acta·B H Robinson

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Citations

Dec 17, 2009·Developmental Medicine and Child Neurology·Christine BarneriasIsabelle Desguerre
Apr 13, 2012·Pediatrics International : Official Journal of the Japan Pediatric Society·Valeria VastaSi Houn Hahn
Oct 21, 2010·Pediatrics International : Official Journal of the Japan Pediatric Society·Satoshi SatoAkinori Hoshika

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