The primary causes of metabolic disorders include genetic mutations, enzyme deficiencies, and sometimes environmental factors. Genetic mutations can lead to the production of enzymes with reduced or absent activity, thereby disrupting normal metabolic processes. For instance, phenylketonuria (PKU) is caused by a mutation in the gene coding for the enzyme phenylalanine hydroxylase, leading to the accumulation of phenylalanine, which can cause severe intellectual disabilities if untreated.
