Carnitine palmitoyltransferase 1A deficiency: abnormal muscle biopsy findings in a child presenting with Reye's syndrome

J Inherit Metab Dis. 2017 Sep;40(5):751-752. doi: 10.1007/s10545-017-0041-7. Epub 2017 May 2.
No abstract available

Keywords: Carnitine; Carnitine Palmitoyltransferase; Creatine Kinase; Hypoglycemia; Pediatric Intensive Care Unit.

Publication types

  • Case Reports

MeSH terms

  • Algorithms
  • Biopsy
  • Carnitine O-Palmitoyltransferase / deficiency*
  • Carnitine O-Palmitoyltransferase / genetics
  • Fatty Acids, Nonesterified / metabolism
  • Genetic Variation
  • Humans
  • Hypoglycemia / complications*
  • Hypoglycemia / pathology*
  • Lipid Metabolism, Inborn Errors / complications*
  • Lipid Metabolism, Inborn Errors / pathology*
  • Lipids / chemistry
  • Microscopy, Electron
  • Muscle, Skeletal / pathology*
  • Mutation
  • Oxygen / chemistry
  • Reye Syndrome / complications*
  • Reye Syndrome / pathology*
  • Vacuoles / metabolism

Substances

  • Fatty Acids, Nonesterified
  • Lipids
  • CPT1A protein, human
  • Carnitine O-Palmitoyltransferase
  • Oxygen

Supplementary concepts

  • Carnitine palmitoyl transferase 1A deficiency