Vitamin-responsive pyruvate dehydrogenase deficiency in a young girl with external ophthalmoplegia, myopathy and lactic acidosis.
Scholte
H R
HR
Department of Biochemistry, Erasmus University Rotterdam, The Netherlands.
Busch
H F
HF
Luyt-Houwen
I E
IE
D000140:Acidosis, Lactic / Q000188:drug therapy / Q000209:etiology*; D002648:Child; D005260:Female; D006801:Humans; D008928:Mitochondria / Q000201:enzymology / Q000648:ultrastructure; D009132:Muscles / Q000648:ultrastructure; D009135:Muscular Diseases / Q000188:drug therapy / Q000209:etiology*; D009886:Ophthalmoplegia / Q000188:drug therapy / Q000209:etiology*; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000209:etiology*; D012256:Riboflavin / Q000627:therapeutic use*; D013831:Thiamine / Q000627:therapeutic use*
D012256:Riboflavin; D013831:Thiamine