Inborn errors of metabolism

Definition

Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products).

Exclusions

• Disorders of lipoprotein metabolism or certain specified lipidaemias

13 subordinate codes

• 5C50Inborn errors of amino acid or other organic acid metabolism
• 5C51Inborn errors of carbohydrate metabolism
• 5C52Inborn errors of lipid metabolism
• 5C53Inborn errors of energy metabolism
• 5C54Inborn errors of glycosylation or other specified protein modification
• 5C55Inborn errors of purine, pyrimidine or nucleotide metabolism
• 5C56Lysosomal diseases
• 5C57Peroxisomal diseases
• 5C58Inborn errors of porphyrin or heme metabolism
• 5C59Inborn errors of neurotransmitter metabolism
• 5C5AAlpha-1-antitrypsin deficiency
• 4B4YOther specified diseases of the immune system
• 4B4ZDiseases of the immune system, unspecified

Nearby in Metabolic disorders

• 5C60-5C6ZDisorders of metabolite absorption or transport
• 5C70-5C7ZDisorders of fluid, electrolyte or acid-base balance
• 5C80-5C8ZDisorders of lipoprotein metabolism or certain specified lipidaemias
• 5C90Metabolic or transporter liver disease
• 5D00-5D0YOther metabolic disorders
• 4B4ZDiseases of the immune system, unspecified