<unk>  comprise a large class of genetic diseases involving disorders of<unk> . The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects of reduced ability to synthesize essential compounds.<unk>  are now often referred to as congenital metabolic diseases or inherited metabolic diseases, and these terms are considered synonymous.
Inborn error of metabolism
Glycogen storage disease
Mucopolysaccharidosis
Hemoglobinopathy
Sphingolipidoses
Inborn error of lipid metabolism
Urea cycle disorder
Biotinidase deficiency