RESUMEN
A comatose male newborn infant with congenital lactic acidosis caused by pyruvate decarboxylase deficiency was treated with dichloroacetate (DCA), which stimulated an 88% drop in serum lactate concentration and reversed his coma. The response to DCA was temporary and the lactic acidosis worsened until his death, but DCA may confer more lasting benefit in less severely affected infants.
Asunto(s)
Acidosis Láctica/congénito , Acidosis Láctica/tratamiento farmacológico , Ácido Dicloroacético/uso terapéutico , Piruvato Descarboxilasa/deficiencia , Errores Innatos del Metabolismo del Piruvato/tratamiento farmacológico , Acidosis Láctica/etiología , Humanos , Recién Nacido , Masculino , Errores Innatos del Metabolismo del Piruvato/complicacionesRESUMEN
The two first homozygous (or double heterozygous) cases of pyruvate kinase (PK) deficiency found in a Costa Rica family with no signs of consanguinity are reported. The clinical manifestations of the deficiency were present in both cases, these being enhanced in one of them by pregnancy. The family study performed showed the heterozygous character of the PK deficiency in all cases, plus the demonstration in two instances (father and brother) of a heterozygous haemoglobin C disease. The importance of the PK/HK quotient in the identification of the PK deficiency heterozygous is stressed, especially when the enzyme activity registered from haemolysates falls within the normal range.