Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival.
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ABSTRACT:
SUBMITTER: Yoshida T
PROVIDER: S-EPMC5451473 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
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Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival.
Yoshida Takanobu T Kido Jun J Mitsubuchi Hiroshi H Matsumoto Shirou S Endo Fumio F Nakamura Kimitoshi K
Human genome variation 20170601
Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) results in lactic acidosis and hyperpyruvatemia. Two patients with PDHAD, a man with a p.R263Q mutation, and a girl with a p.C145del mutation in <i>PDHE1α</i>, presented with lactic acidosis with neurological disorder. These patients were able to survive for a long period under careful nursing care. Herein, we discuss the factors contributing to their relatively stable clinical course, albeit with intellectual disability. ...[more]
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