Pyruvate kinase deficiency in the newborn infant

4 cases with haemolytic anemia associated with pyruvate kinase deficiency from 3 different families are presented. Different clinical development during the first year of life is demonstrated and discussed.     

Vitamin K deficiency in diarrhoea

The study was undertaken to determine the frequency of occurrence of vitamin K deficiency in infants with diarrhoeal illness. Infants were categorized into four groups as follows: A(acute diarrhoea), B(protracted diarrhoea) C(intractable diarrhoea) and D(healthy controls). Screening coagulation tests, PT and PTTK alongwith estimation of functional activity and total antigenic levels of prothrombin were performed. The ratio of functional to total prothrombin was calculated. PT was prolonged in 30% (24/75) of all infants with diarrhoea as compared to controls where the abnormality was observed in 11.1% infants (2/18). The ratio of functional to total prothrombin was significantly lower in infants with diarrhoea, the mean ±SD values being 0.65±_0.41 vs 1.1 ±0.26. This difference was statistically highly significant (p<0.001). Low ratio was observed in 57.3% (43/75) infants with diarrhoea. Thus functional to total prothrombin ratio identified approximately twice as many diarrhoeal infants with vitamin K deficiency as compared to PT alone. There was no significant correlation with breast feeding as the only mode of diet, or the prior administration of antibiotics in infants with diarrhoea. The inherent malabsorptive state in diarrhoea may be a major contributory factor.     

Prothrombin and vitamin K deficiency in the newborn

To detect any vitamin K deficiency at birth, prothrombin coagulant activity, antigen, and acarboxyprothrombin were examined in umbilical blood samples from 105 infants, 81 of whom constituted a normal group, while 24 had had minor gestational or perinatal complications. Values ranged from 8% to 70% (median: 34%) for P&P, from 17% to 70% (median: 40%) for prothrombin antigen, and from 7.11 to 7.51 (median: 7.29) for pH, no differences being discernible between normals and those with complications. Acarboxyprothrombin, indicating vitamin K deficiency, was detected in two cases, one from each group, but could not be correlated to either P&P or pH values. Conclusion: Vitamin K deficiency is rare among healthy, well-nourished Swedish neonates. The low values for prothrombin coagulant activity and for antigen would appear to be the result of decreased hepatic synthesis of the clotting factor molecule.