- Causes a buildup of pyruvate that gets shunted to lactate (via LDH) and alanine (via ALT).
- X-linked.
- Findings
- Neurologic defects, lactic acidosis, ↑ serum alanine starting in infancy.
- Treatment
- ↑ intake of ketogenic nutrients (eg, high fat content or ↑ lysine and leucine).