Abstract
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 PDHE1α, 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.
Highlights
Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) results in lactic acidosis and hyperpyruvatemia
The spectrum of the clinical manifestations of PDHAD ranges from severe neonatal lactic acidosis with early death to intermittent ataxia with a late-onset progressive neurodegenerative course.[1,2]
He could support his head at 6 months and could stand with support at 14 months. He first presented with apnea at 19 months and was referred to our institution. He presented with severe metabolic acidosis, hyperlactacidemia (50.8 mg/dl) and hyperpyruvic acidemia (3.4 mg/dl)
Summary
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 PDHE1α, presented with lactic acidosis with neurological disorder. PDH E1α deficiency (PDHAD, MIM #312170) results in lactic acidosis and hyperpyruvatemia. The spectrum of the clinical manifestations of PDHAD ranges from severe neonatal lactic acidosis with early death to intermittent ataxia with a late-onset progressive neurodegenerative course.[1,2]
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