Gender-Specific Occurrence of West Syndrome in Patients with Pyruvate Dehydrogenase Complex Deficiency

References

• 1 Bakker H D, Bogert C V, Drewes J GD, Barth P G, Scholte H R, Wanders R JA, Ruitenbeek W. Progressive generalized brain atrophy and infantile spasms associated with cytochrome c oxidase deficiency.  J Inher Metab Dis. 1996;  19 153-156
• 2 Dahl H HM. Pyruvate dehydrogenase E₁α deficiency: male and female differ yet again.  Am J Hum Genet. 1995;  56 553-557
• 3 Ito M, Huq A HMM, Naito E, Saijo T, Takeda E, Kuroda Y. Mutation of E₁α gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein.  J Inher Metab Dis. 1992;  15 848-856
• 4 Lissens W, Meirleir D L, Sebeca 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. Mutation in the X-linked pyruvate dehydrogenase(E1) α subunit gene (PDHA) in patients with a pyruvate dehydrogenase complex deficiency.  Human Mutation. 2000;  15 209-219
• 5 Matsuda J, Ito M, Naito E, Yokota I, Kuroda Y. DNA diagnosis of pyruvate dehydrogenase deficiency in female patients with congenital lactic acidemia.  J Inher Metab Dis. 1995;  18 534-546
• 6 Naito E, Kuroda Y, Takeda E, Yokota I, Kobashi H, Miyao M. Detection of pyruvate metabolism of skin fibroblasts with dichloroacetate.  Pediatr Res. 1988;  23 561-564
• 7 Naito E, Ito M, Takeda E, Yokota I, Yoshijima S, Kuroda Y. Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia.  Pediatr Res. 1994;  36 340-346
• 8 Naito E, Ito M, Yokota I, Saijo T, Chen S, Maehara M, Kuroda Y. Concomitant administration of sodium dichloroacetate and thiamine in West syndrome caused by thiamine-responsive pyruvate dehydrogenase complex deficiency.  J Neuro Sciences. 1999;  171 56-59
• 9 Riikonen R. West's syndrome. Wallance S Epilepsy in Children. London; Chapman & Hal 1996: 209-225
• 10 Robinson B H, MacKay N, Chun K, Ling M. Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex.  J Inher Metab Dis. 1996;  19 452-462
• 11 Rutledge S L, Snead O C, Kelly D R, Kerr D S, Swann J W, Spink D L, Martin D L. Pyruvate carboxylase deficiency. Acute exacerbation after ACTH treatment of infantile spasms.  Pediatr Neurol. 1989;  5 249-252
• 12 Takahashi S, Miyamoto A, Tokumitsu A, Obata M, Ogawa K, Tokusashi Y. Autopsy finding in pyruvate dehydrogenase E₁α deficiency: Case report.  J Child Neurology. 1997;  12 519-524