Article
Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene.
Prague medical report - 1 Jan 2011
Magner M, Vinšová K, Tesařová M, Hájková Z, Hansíková H, Wenchich L, Ješina P, Smolka V, Adam T, Vaněčková M, Zeman J, Honzík T
Abstract excerpt
The most common cause of pyruvate dehydrogenase complex (PDHc) deficiency is the deficit of the E1α-subunit. The aim of this study was to describe distinct course of the disease in two boys with mutations in PDHA1 gene and illustrate the possible obstacles in measurement of PDHc activity. Clinical data and metabolic profiles were collected and evaluated. PDHc and E1α-subunit activities were measured using...
Topics
- Adolescent
- Blotting, Western
- Child
- Humans
- Male
- Mutation
- Pyruvate Dehydrogenase (Lipoamide)
- Pyruvate Dehydrogenase Complex Deficiency Disease
- Sequence Analysis, DNA