Inborn Errors of Metabolism

Chromosome basis of human heredity. Disorders of carbohydrate metabolism (pentosuria, diseases of fructose metabolism and glycogen storage diseases), amino acid metabolism (urea cycle disorders, disorders of folate metabolism), lipid and steroid metabolism (lipoprotein deficiency and hyper-lipoproteinaemia, familial diseases of sterol metabolism), purine, pyrimidine, metals and porphyrin metabolism. Disorders of connective tissue, muscle and bone metabolism. Defects in the transport of carbohydrates, lipids, amino acids and steroids. Deficiency of circulating enzymes and plasma proteins.