Inborn errors of metabolism

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

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  (5C80-5C8Z)

sections/codes in this section (5C50-5C5Z)

• Inborn errors of amino acid or other organic acid metabolism  (5C50)
• Inborn errors of carbohydrate metabolism  (5C51)
• Inborn errors of lipid metabolism  (5C52)
• Inborn errors of energy metabolism  (5C53)
• Inborn errors of glycosylation or other specified protein modification  (5C54)
• Inborn errors of purine, pyrimidine or nucleotide metabolism  (5C55)
• Lysosomal diseases  (5C56)
• Peroxisomal diseases  (5C57)
• Inborn errors of porphyrin or heme metabolism  (5C58)
• Inborn errors of neurotransmitter metabolism  (5C59)
• Alpha-1-antitrypsin deficiency  (5C5A)
• Other specified inborn errors of metabolism  (5C5Y)
• Inborn errors of metabolism, unspecified  (5C5Z)

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