Propionic acidaemia: two cases in chile

Abstract

CASE REPORTPropionic aeidaemia: two cases in Chile E. Raimann, V. Cornejo, C. G. Perates and M. Colombo Case 1 F.D.S., male, birth weight 2980g. At the second day of life he presented hypoglycaemia and 24 h later developed metabolic acidosis. At the 6th day of life he had vomiting, hypotonia and hyperreflexia that progressed to seizures and coma. Blood analyses showed metabolic acidosis and hyperammonaemia. The diagnosis of propionic acidaemia was confirmed by the study of organic acids in urine by gas chromatography, which showed large increases in the excretion of lactic, 3-hydroxypropionic, and methylcitric acids and in propiony!glycine, with a slight increase in 3-hydroxyisovaleric acid. A low protein, hypercaloric diet (1 g protein/kg per day, 200cal/kg per day) was started at the 10th day of life. Although severely undernourished, with treatment he recovered weight and height. At 5 months he had a psychomotor development of 3 months. One month later he had a bronchopneumonia and a severe metabolic imbalance and died. Case 2 J.G.F., 9-year-old boy. This boy developed normally until the age of 3 months, when he started vomiting, became severely hypotonic and started to present psychomotor delay. The diagnosis of propionic acidaemia was made at 16 months of age using gas chromatography (large increases in 3-hydroxypropionic, 3-hydroxyisovaleric and methylcitric acids and in propionylglycine). The treatment (a low protein, hypercaloric diet) was started at the age of diagnosis with 1 g protein/kg/day and 150 cal/kg per day. His physical development is normal and he has a borderline intelligence quotient.