The 26 identified inherited metabolic disorders which can simulate Reye's syndrome are provided by a number of organisations specialising in rare diseases. We list them under four sub-heads here.
The 26 identified inherited metabolic disorders which can simulate Reye’s syndrome (referred to in the introduction on Reye-like syndromes) are listed under headings: Lipid metabolism; Amino acid metabolism; Carbohydrates metabolism; Other defects.
Where available, each listed disorder links to a website where you can read more information.
You can also find a disorder by searching on Genetics Home Reference – Health conditions A-Z index.
Where appropriate, we have provided notes relating to a specific disorder.
These listings are updated by:
Dr S. Olpin MSc PhD CSci EUSpLM FRCPath
Consultant Clinical Scientist in Inherited Metabolic Disease
Sheffield Children’s Hospital UK
Defects in metabolism of lipids
Disorders of Mitochondrial Fatty Acid Oxidation
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) and Mitochondrial trifunctional protein deficiency
Defects in Electron Transfer Pathway
- Multiple acyl-CoA dehydrogenase deficiency- severe and mild
- Riboflavin responsive multiple acyl-CoA dehydrogenase deficiency note 1
Defects in the Carnitine cycle
- Carnitine palmitoy ltransferase deficiency Types CPT(Ia) CPT1(liver) & CPT II
- Carnitine-acylcarnitine translocase deficiency
- Carnitine deficiency myopathic/systemic – also known as:
- Primary carnitine deficiency
- Systemic carnitine deficiency
- Carnitine transporter deficiency
- OCTN2 transporter deficiency
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
- Isovaleric acidaemia (IVA)
- Maple syrup disease
- also known as: Maple syrup urine disease (MSUD)
- 3-Methylglutaconic aciduria
- Methylmalonic acidaemia
- Mitochondrial acetoacetyl-CoA thiolase deficiency
- also known as: Beta-ketothiolase deficiency
- Multiple carboxylase deficiency (MCD) note 2
- Propionic acidaemia
Disorders of Ammonia Detoxification – Urea Cycle Defects
- Ornithine transcarbamylase deficiency (OTC)
- Carbamyl phosphate synthetase deficiency
- Argininosuccinic aciduria
- Hyperornithinaemia hyperammonaemia homocitrullinuria (HHH)
Disorder of Amino Acids Transport
Date of next review: December 2021
Riboflavin responsive multiple acyl-CoA dehydrogenase deficiency
This disorder is increasingly recognised as a cause of muscle weakness in adolescent girls in particular, but as well as muscle problems some present with acute ketotic vomiting and decreased consciousness rather like a Reye’s-syndrome presentation.
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.