Systemic Primary Carnitine Deficiency: A Case Report with Homozygoys SLC22A5 Gene Mutation

Klin Padiatr. 2022 Jul;234(4):244-245. doi: 10.1055/a-1730-5472. Epub 2022 Jul 12.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Cardiomyopathies
  • Carnitine / deficiency
  • Carnitine / genetics
  • Carnitine / therapeutic use
  • Humans
  • Hyperammonemia* / diagnosis
  • Hyperammonemia* / genetics
  • Muscular Diseases*
  • Mutation
  • Solute Carrier Family 22 Member 5 / genetics

Substances

  • SLC22A5 protein, human
  • Solute Carrier Family 22 Member 5
  • Carnitine

Supplementary concepts

  • Systemic carnitine deficiency