Introduction

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

Defects in metabolism of carbohydrates

Fructose Intolerance

• Fructose intolerance – Hereditary

Disorder of Gluconeogenesis

• Fructose – 1,6-Bisphosphatase Deficiency

Glycogen Storage Disease

• Glycogen storage disease

Disorder of Glycerol Metabolism

• Glycerol kinase deficiency

Other defects

Disorders of Ammonia Detoxification – Urea Cycle Defects

• Ornithine transcarbamylase deficiency (OTC)
• Carbamyl phosphate synthetase deficiency
• Argininosuccinic aciduria
• Citrullinaemia
• Hyperornithinaemia hyperammonaemia homocitrullinuria (HHH)

Disorder of Amino Acids Transport

• Lysinuric protein intolerance

Date of next review: December 2021