Primary plasmalemmal carnitine transporter defect manifested with dicarboxylic aciduria and impaired fatty acid oxidation

J Inherit Metab Dis. 1998 Jun;21(4):423-5. doi: 10.1023/a:1005314910623.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Alanine Transaminase / blood
  • Carnitine / blood*
  • Carnitine Acyltransferases / blood*
  • Dicarboxylic Acids / urine*
  • Fatty Acids / metabolism*
  • Humans
  • Infant
  • Male
  • Oxidation-Reduction
  • Reye Syndrome / blood*
  • Reye Syndrome / enzymology

Substances

  • Dicarboxylic Acids
  • Fatty Acids
  • Carnitine Acyltransferases
  • Alanine Transaminase
  • Carnitine