Inborn errors of metabolism

Тодорхойлолт

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).

Дэд ангилал 11

• 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›