The Routine Investigation of Urinary Organic Acids in Selected Paediatric Patients: Results over a 2 1/2-Year Period

Abstract

Over a 2 1/2-year period 13 patients with inborn errors of organic acid metabolism, excluding undifferentiated lactic acidosis, have been diagnosed in our laboratories. The diagnostic yield in patients who had not previously been investigated by organic acid chromatography was 1 in 25, the majority of cases having presented with metabolic acidosis. A larger number of non-specific abnormalities were also detected. This type of investigation is beset with pitfalls and is extremely labour intensive.