Metabolic studies of transient tyrosinemia in premature infants

Abstract

The recently developed technique of gas chromatography- mass spectrometry supported by computer has considerably improved the analysis of physiologic fluids. This study attempted to demonstrate the value of this system in the investigation of metabolite patterns in urine in two metabolic problems of prematurity, transient tyrosinemia and late metabolic acidosis. Serial 24-hr urine specimens were analyzed in 9 infants. Transient tyrosinemia, characterized by 5—10- fold increases over basal excretion of tyrosine, p-hydroxy- phenyllactate, and p-hydroxyphenylpyruvate in urine, was noted in five of the infants. Several infants had fluctuating levels of tyrosine metabolites in urine although dietary protein intake remained constant at 3—4 g/kg/24 hr and ascorbic acid at 50 mg/24 hr. Late metabolic acidosis was seen in four infants, but bore no relation to transient tyrosinemia. The ratio of net acid to urea excretion in urine increased with increasing base deficit, implying a nonprotein origin of the metabolic acid. No unique metabolic patterns were characteristic of late metabolic acidosis. Advances in gas chromatography-mass spectrometry-computer technology (GC-MS-computer) allow for the screening of body fluids for a wide variety of compounds of biologic importance. One application of this technique is for the investigation of the nutritional adequacy of diets for premature infants. Clinical use of these tools may help establish parameters for assessment of nutrition and allow for a rationalization of diet. © 1975 International Pediatric Research Foundation, Inc.