Pyruvate Dehydrogenase Complex Deficiency Due to PDHA1 Mutation-A Rare Treatable Cause for Episodic Ataxia in Children

Indian J Pediatr. 2022 May;89(5):519. doi: 10.1007/s12098-021-04068-x. Epub 2022 Feb 8.
No abstract available

Publication types

  • Letter

MeSH terms

  • Ataxia / genetics
  • Child
  • Humans
  • Mutation
  • Pyruvate Dehydrogenase (Lipoamide) / metabolism*
  • Pyruvate Dehydrogenase Complex Deficiency Disease* / genetics

Substances

  • Pyruvate Dehydrogenase (Lipoamide)
  • pyruvate dehydrogenase E1alpha subunit

Supplementary concepts

  • Episodic Ataxia