Metabolic disorders

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.

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

Defects in Electron Transfer Pathway

Defects in the Carnitine cycle

Defects in metabolism of Branched Chain Amino Acids

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

Defects in metabolism of carbohydrates

Fructose Intolerance

Disorder of Gluconeogenesis

Glycogen Storage Disease

Disorder of Glycerol Metabolism

Date of next review: December 2021

References

(1)

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.

(2)

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.