Screening for metabolic disorders among high risk infants and children.

Abstract

In a screening program in Cincinnati urine specimens from over 20,000 infants and children were tested for inherited metabolic disorders involving amino acids, carbohydrates, phenolic acids, organic acids, keto acids, mucopolysaccharides, and imidazoles. The subjects were selected on the basis of symptoms such as vomiting, diarrhea, acidosis, seizures, failure to thrive, delayed development, mental retardation, and others. The tests were based primarily on paper chromatographic techniques. Patients with 21 different metabolic disorders were found. The patterns of abnormal excretion of amino acids and other metabolites are often useful in making a diagnosis.