• An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.
  • Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., acidosis) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.
  • Disorders affecting amino acid metabolism; majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (for example, acidosis) and neurologic manifestations; present at birth, although they may not become symptomatic until later in life.