Inborn errors of amino acid or other organic acid metabolism are genetic disorders caused by an inherited defect in a specific enzyme, resulting in an inability to properly metabolize proteins, amino acids, and other organic acids.
Diagnosis of these disorders can be made through a combination of clinical, biochemical, and molecular genetic testing. Clinical symptoms can include failure to thrive, intellectual disability, seizures, and other neurological problems. Biochemical testing includes urine organic acid analysis, plasma and urine amino acid analysis, and other specific tests based on the suspected disorder. Molecular genetic testing is used to confirm diagnosis.
Differential diagnosis includes other metabolic disorders, endocrinopathies, and neurological disorders.
Treatment of these disorders is aimed at correcting the metabolic imbalance, providing supportive care, and managing the symptoms. Treatment may include special diets, enzyme replacement therapy, dietary supplements, and other medications.
Prognosis is variable and depends on the severity and type of disorder. Some disorders may be managed with treatment and have a good prognosis, while others may result in serious complications or death.