Article
Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia.
Pediatric research - 1 Sept 1994
Naito E, Ito M, Takeda E, Yokota I, Yoshijima S, Kuroda Y
Abstract excerpt
A patient who responded to thiamine therapy with reduction of lactate in the blood and cerebrospinal fluid and clinical improvement was studied. Cultured lymphoblastoid cells of this patient were found to show reduced activities of pyruvate dehydrogenase complex (PDHC) and pyruvate dehydrogenase,...
Topics
- Acidosis, Lactic
- Base Sequence
- Decarboxylation
- Humans
- Immunoblotting
- Infant, Newborn
- Lactates
- Lactic Acid
- Lymphocytes
- Male
- Molecular Sequence Data
- Mutation
- Pyruvate Dehydrogenase Complex
- Pyruvate Dehydrogenase Complex Deficiency Disease
- Thiamine
- Thiamine Pyrophosphate