Inborn disorder of amino acid metabolism
Inborn disorder of amino acid metabolism
Definition
An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.
Also known as inborn cellular amino acid metabolic process disorder, inborn error of amino acid metabolism, inborn error of cellular amino acid metabolic process, inherited amino acid metabolic disorder, rare inborn error of cellular amino acid metabolic process — per MONDO