Amino acid metabolism disorders are hereditary metabolic disorders that occur when amino acids are not properly processed in the body.
Hereditary disorders occur when parents pass on to their children the defective genes that cause these disorders. In most hereditary metabolic disorders, both parents of the affected child carry 1 copy of the abnormal gene. Because usually 2 copies of the abnormal (recessive) gene are necessary for the disorder to occur, usually neither parent has the disorder. Some hereditary metabolic disorders are X-linked, which means only 1 copy of the abnormal gene can cause the disorder in boys.
Amino acids are the building blocks of proteins and have many functions in the body. The body makes some of the amino acids it needs and gets others from food. Hereditary disorders of amino acid processing (metabolism) can result from defects either in the breakdown of amino acids or in the body’s ability to get amino acids into cells.
Disorders of amino acid metabolism include the following:
More Information
The following English-language resources may be useful. Please note that THE MANUAL is not responsible for the content of these resources.
National Organization for Rare Disorders (NORD): This resource provides information to parents and families about rare diseases, including a list of rare diseases, support groups, and clinical trial resources.
Genetic and Rare Diseases Information Center (GARD): This resource provides and easy to understand information about rare or genetic diseases.
