National Reyes Syndrome Foundation UK

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Inherited Metabolic Disorders Which Can Simulate Reye's Syndrome

Defects in Metabolism of Branched Chain Amino Acids

Disorders of Branched Chain Amino Acids
(valine, leucine, isoleucine & related organic acidaemias)

  • 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (3)

  • Isovaleric acidaemia (IVA)

  • Maple syrup disease
       also known as:
       Maple syrup urine disease(MSUD)

  • 3-Methylglutaconic aciduria
    see note iii

  • Methylmalonic acidaemia

  • Mitochondrial acetoacetyl-CoA thiolase deficiency
       also known as:
       Beta-ketothiolase deficiency

  • Multiple carboxylase deficiency (MCD)
    see note iv

  • Propionic acidaemia

Note iii

3-Methylglutaconic aciduria is listed on the CLIMB website individually under type 1, type 11, type111, type1V & type V.  

Note iv

Multiple carboxylase deficiency (MCD) is a term used to divide inborn errors of biotin metabolism characterised by reduced activities of biotin – dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia and development delay.  Further information about this disorder can be found by consulting GARD – Genetic and Rare Diseases Information Centre, click on to "Diseases" which will reveal an alphabetical index.  See Resources & Reports  shown opposite.


Next review January 2020