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Mol Genet Metab. 2010 Jul;100(3):296-9. doi: 10.1016/j.ymgme.2010.04.004. Epub 2010 Apr 14.

Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency.

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1
Section of Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Abstract

Pyruvate dehydrogenase complex deficiency is a clinically heterogeneous disorder. Most cases are due to mutations in an X-linked PDHA1 gene encoding the E1alpha subunit of the multienzyme complex. Females with mutations in the PDHA1 gene may be asymptomatic or have a milder phenotype as a result of skewed X-inactivation, while males are typically more severely affected. We report a case of PDHA1 mosaicism in a male patient who had a milder phenotype.

PMID:
20462777
DOI:
10.1016/j.ymgme.2010.04.004
[Indexed for MEDLINE]
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