National Reyes Syndrome Foundation UK

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Inherited Metabolic Disorders Which Can Simulate Reye's Syndrome

Defects in Metabolism of Lipids

DISORDERS OF MITOCHONDRIAL FATTY ACID OXIDATION

 

Defects in the ß-Oxidation Cycle

  • Medium-Chain Acyl-CoA Dehydrogenase Deficiency
  • Very Long Chain Acyl-CoA Dehydrogenase Deficiency
  • Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
     
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 Acyl-Carnitine 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 Acyl-Carnitine 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

http://ghr.nlm.nih.gov/condition/carnitine-acylcarnitine-translocase-deficiency