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Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival

Takanobu Yoshida1, Jun Kido1, Hiroshi Mitsubuchi1

  • 1Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.

Human Genome Variation
|June 7, 2017
PubMed

Insights

Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) causes lactic acidosis. Two patients with PDHAD survived long-term with careful care, despite intellectual disability, highlighting management factors.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) is a rare metabolic disorder.
  • It leads to lactic acidosis and hyperpyruvatemia, often with severe neurological impairment.

Purpose of the Study:

  • To discuss factors contributing to a relatively stable clinical course in two PDHAD patients.
  • To analyze the long-term survival and management of PDHAD.

Main Methods:

  • Case report of two patients with PDHAD.
  • Genetic analysis identifying mutations in the PDHE1α gene (p.R263Q and p.C145del).
  • Clinical observation and discussion of nursing care strategies.

Main Results:

  • Two patients with PDHAD, including a man with p.R263Q and a girl with p.C145del mutations, presented with lactic acidosis and neurological disorder.
  • Both patients survived for extended periods under meticulous nursing care.
  • Intellectual disability was a consistent feature in both cases.

Conclusions:

  • Careful nursing care and management are crucial for long-term survival in PDHAD patients.
  • Understanding genetic mutations and clinical presentation aids in managing PDHAD.
  • PDHAD management can lead to a relatively stable clinical course despite neurological deficits.

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