National Reyes Syndrome Foundation UK

Second level navigation header

Inherited Metabolic Disorders Which Can Simulate Reye's Syndrome

Defects in Metabolism of Lipids



Defects in the ß-Oxidation Cycle

  • Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
  • Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD)
  • Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCADD)
Defects in Electron Transfer Pathway

  • Multiple Acyl-CoA Dehydrogenase Deficiency- severe and mild
  • Riboflavin Responsive Multiple Acyl-CoA Dehydrogenase Deficiency
    see note i
Defects in the Carnitine Cycle

  • Carnitine Palmitoyltransferase Deficiency Types CPT(Ia) CPT1(liver) & CPT II

  • Carnitine Acylcarnitine Translocase Deficiency
    see note ii

  • Carnitine Deficiency Myopathic/Systemic
       also known as:
       Primary Carnitine Deficiency
       Systemic Carnitine Deficiency
       Carnitine Transporter Deficiency
       OCTN2 Transporter Deficiency

Note i

Riboflavin Responsive Multiple Acyl-CoA Dehydrogenase Deficiency is not  listed on the CLIMB website, This disorder is increasingly recognised as a cause of muscle weakness in adolescent girls in particular but as well as the muscle problems some present with acute ketotic vomiting and decreased consciousness rather like a Reye-syndrome presentation.

Note ii

Carnitine Acylcarnitine Translocase Deficiency is not listed on the CLIMB website. This disorder results in the inability to utilise long chain fatty acids & is biochemically & clinically very similar to the neonatal/infantile form of CPTII deficiency. Further  information about this disorder can be found by consulting Genetics Home Reference

Next review January 2020