Pyruvate Dehydrogenase Deficiency

Symptoms: Lactic acidosis, ataxia, pyruvic acidosis, spinal and cerebellar degeneration

Less Common: Agenesis of the corpus callosum and lesions in the basal ganglia, cerebelum, and brain stem

Also: Growth delay, hypotonia, seizures, and polyneuropathy. Sometimes found to be the cause of Leigh Syndrome.

Cause: Varies

Links: https://rarediseases.info.nih.gov/diseases/7513/pyruvate-dehydrogenase-complex-deficiency