A Korean Female Patient with Thiamine-responsive Pyruvate Dehydrogenase Complex Deficiency Due to a Novel Point Mutation (Y161C)in the PDHA1 Gene
Pyruvate dehydrogenase complex (PDHC) deficiency is mostly due to mutations in the X-linked E1α subunit gene (PDHA1). Some of the patients with PDHC deficiency showed clinical improvements with thiamine treatment. We report the results of biochemical and molecular analysis in a female patient with l...
| Main Authors: | , , , , , |
|---|---|
| Format: | Online |
| Language: | English |
| Published: |
The Korean Academy of Medical Sciences
2006
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2721986/ |