An approach to the diagnosis of metabolic diseases

Inborn metabolic errors, which are not common, may have significant implications for patients. Those patients with such errors who have acute life-threatening symptoms must be treated immediately, and specimens for analysis should be obtained and saved for later analysis during the critical stage. Many infants and children seen with acute symptoms are the ones most likely to have treatable diseases. At a more leisurely pace, other inborn errors can be diagnosed to provide appropriate counseling and prognosis.