Abstract
In 1977 a partial deficiency of Gal-1-P uridyl transferase (Gal-1-PUT) was found in 0.015% of 73691 Beutler tests performed by Swiss laboratories for neonatal screening. Some of these cases with marked reduction of Gal-1-PUT activity (mean 18% of normal) were identified as double heterozygotes for Duarte variant and galactosemia (2-0). Fasting plasma galactose concentrations did not exceed 2.2 mg/d1 in 19 (2-0) patients and 1.4 mg/d1 in age-matched controls, erythrocyte (Ec) Gal-1-P varied between 0-1.6 mg/d1 in both groups. Oral galactose tolerance tests (1g/kg b.w.) were done in all (2-0) patients: 6 neonates (A), 6 infants after 1 year of galactose-free diet (B) and 7 patients (age 1.8-18.6 years) who had never received a diet (C). Peak plasma galactose levels were reached at 60 or 90 min. in all subjects. Gal-1-P reached 6.0-22.7 mg/d1 Ec in A, 3.7-31.3 mg/d1 in B and 6.0-11.7 mg/d1 in C at 60 min. By contrast, in controls, maximum Gal-1-P levels never exceeded 2.7 mg/d1. As Gal-1-P is the incriminated toxic agent in galactosemia, this finding may be of pathophysiological importance.
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Schwarz, H., Zuppinger, K., Zimmermann, A. et al. Elevation of erythrocyte galactose-l-Phosphate (Gal-l-P) in children with double heterozygosity for Duarte variant and galactosemia. Pediatr Res 13, 78 (1979). https://doi.org/10.1203/00006450-197901000-00053
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DOI: https://doi.org/10.1203/00006450-197901000-00053