References
- Patel MS, Nemeria NS, Furey W, Jordan F. The pyruvate dehydrogenase complexes: structure-based function and regulation. J Biol Chem. 2014;289:16615-23.
- Maj MC, Cameron JM, Robinson BH. Pyruvate dehydrogenase phosphatase deficiency: orphan disease or an under-diagnosed condition? Mol Cell Endocrinol. 2006;249:1-9.
- Kara B, Genc HM, Uyur-Yalcin E, et al. Pyruvate dehydrogenase-E1alpha deficiency presenting as recurrent acute proximal muscle weakness of upper and lower extremities in an 8-year-old boy. Neuromuscul Disord. 2017;27:94-7.
- Patel KP, O'Brien TW, Subramony SH, Shuster J, Stacpoole PW. The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients. Mol Genet Metab. 2012;106:385-94.
- Stenlid MH, Ahlsson F, Forslund A, von Dobeln U, Gustafsson J. Energy substrate metabolism in pyruvate dehydrogenase complex deficiency. J Pediatr Endocrinol Metab. 2014;27:1059-64.
- DeBrosse SD, Okajima K, Zhang S, et al. Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex [PDC] deficiency: lack of correlation with genotype. Mol Genet Metab. 2012;107:394-402.
- Imbard A, Boutron A, Vequaud C, et al. Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein. Mol Genet Metab. 2011;104:507-16.
- Brown RM, Head RA, Boubriak II, Leonard JV, Thomas NH, Brown GK. Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency. Hum Genet. 2004;115:123-7.
- Ciara E, Rokicki D, Halat P, et al. Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing. Mol Genet Metab Rep. 2016;7:70-6.
- De Meirleir L. Defects of pyruvate metabolism and the Krebs cycle. J Child Neurol. 2002;17(Suppl 3):3S26-33.
- Kerr DS. Treatment of congenital lactic acidosis: a review. Int Pediatr. 1995;10:75–81.
- Kossoff EH, Zupec-Kania BA, Amark PE, et al. Optimal clinical management of children receiving the ketogenic diet: recommendations of the International Ketogenic Diet Study Group. Epilepsia. 2009;50:304-17.
- El-Gharbawy AH, Boney A, Young SP, Kishnani PS. Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet. Mol Genet Metab. 2011;102:214-5.
- Stacpoole PW, Kerr DS, Barnes C, et al. Controlled clinical trial of dichloroacetate for treatment of congenital lactic acidosis in children. Pediatrics. 2006;117:1519-31.