Pyruvate dehydrogenase deficiency
PDCD typically presents in newborns or infants with lactic acidosis and mental status changes (poor feeding, lethargy). Patients subsequently develop progressive neurologic abnormalities, including ataxia, hypotonia, seizures, and developmental delay. Patients with PDCD often have congenital anatomic abnormalities, such as agenesis of the corpus callosum and facial dysmorphism. PDCD is one cause of Leigh syndrome. Most patients die as infants, but rarely patients may have enough residual enzyme activity to survive into adulthood.
PDCD is treated with dietary modifications: ketogenic diet and supplementation with thiamine, lipoic acid, and carnitine. Even with dietary modification, however, neurological dysfunction remains progressive.
For more information, see OMIM.
E74.4 – Disorders of pyruvate metabolism and gluconeogenesis
46683007 – Pyruvate dehydrogenase complex deficiency
- Other inborn errors of metabolism (many)
- Infantile botulism (initially)