Pyruvate Dehydrogenase Complex Deficiency due to a De Novo Heterozygous Mutation in Exon 7 of PDHA 1 Gene Presenting as Isolated Severe Lactic Acidosis in an Infant

Indian J Pediatr. 2021 Jan;88(1):88. doi: 10.1007/s12098-020-03394-w. Epub 2020 Jun 15.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Acidosis, Lactic* / etiology
  • Acidosis, Lactic* / genetics
  • Exons / genetics
  • Heterozygote
  • Humans
  • Infant
  • Mutation
  • Pyruvate Dehydrogenase (Lipoamide) / genetics*
  • Pyruvate Dehydrogenase Complex Deficiency Disease* / diagnosis
  • Pyruvate Dehydrogenase Complex Deficiency Disease* / genetics

Substances

  • Pyruvate Dehydrogenase (Lipoamide)
  • pyruvate dehydrogenase E1alpha subunit