Hypocarnitinemia in lysinuric protein intolerance

Mol Genet Metab. 2002 May;76(1):81-3. doi: 10.1016/s1096-7192(02)00019-7.

Abstract

Carnitine deficiency in lysinuric protein intolerance (LPI) has been reported only in a single case. We describe hypocarnitinemia in a 11 year-old male patient with LPI and relate its development to intake, biosynthesis, and uptake of carnitine.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Transport Disorders, Inborn / metabolism*
  • Carnitine / administration & dosage
  • Carnitine / biosynthesis
  • Carnitine / deficiency*
  • Child
  • Female
  • Humans
  • Infant
  • Lysine / urine*
  • Male

Substances

  • Lysine
  • Carnitine

Associated data

  • OMIM/222700