Any of a group of inborn errors of metabolism which results in the build up in the body of one or more amino acids in the blood and/or urine. The range and severity of symptoms is hugely variable.

Symptoms Hide

  • Increased level of amino acid in blood
  • Increased level of amino acid in urine
  • Bleeding problems
  • Clotting problems
  • Impaired mental function
  • Developmental problems
  • Mental retardation
  • Neurological symptoms
  • Impaired organ function
  • Enlarged organs
  • Organ failure

Causes Hide

Prevention Hide

Diagnosis Hide

Prognosis Hide

Treatment Hide

Resources Hide