OnlineIMD

4.1        Disorders of carnitine metabolism

  • Type
    Group
  • Pathway
    • Carnitine metabolism and fatty acid oxidation
  • Disease group(s)
    • 4         Disorders of carnitine, mitochondrial fatty acid and ketone body metabolism
  • Child entries
    • Primary carnitine deficiency
    • Carnitine palmitoyltransferase 1A deficiency
    • Autosomal dominant spastic paraplegia type 73
    • Carnitine palmitoyltransferase 2 deficiency
    • Carnitine-acylcarnitine translocase deficiency
    • Epsilon-N-trimethyllysine hydroxylase deficiency
    • Gamma-butyrobetaine hydroxylase deficiency
    • Carnitine acetyltransferase deficiency