摘要：Abstract Pyruvate dehydrogenase complex (PDC) deficiencies are mostly due to mutations in the X-linked {PDHA1} gene. Males with hemizygous {PDHA1} mutations are clinically more severely affected, while those with mosaic {PDHA1} mutations may manifest milder phenotypes. We report a patient harboring a novel, mosaic missense {PDHA1} mutation, c.523G > A (p.A175T), with a severe clinical presentation of congenital microcephaly, significant brain abnormalities, persistent seizures, profound developmental delay, and failure to thrive. We review published cases of {PDHA1} mosaicism.
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