RESUMO
BACKGROUND: Insulin-resistant hyperglycaemia may occasionally complicate the clinical course of organic acidaemias. STUDY DESIGN: Clinical observation. RESULTS: Two term infants, one suffering from acute early-onset methylmalonic acidaemia, the other suffering from acute early-onset propionic acidaemia, presented acutely with dehydration, ketoacidosis, and hyperammonaemia. Urinary organic acid, plasma amino acids, and blood and plasma acylcarnitine analysis allowed the diagnosis of methylmalonic and propionic acidaemias. The detection of the novel c.481G>A (p.Gly161Arg) and the known c.655A>T (p.Asn219Tyr) MUT gene mutations identified the first patient as affected by methylmalonic acidaemia mut type. The high increase of propionylcarnitine after carnitine administration in both patients suggested a greatly elevated metabolic intoxication. Both newborns showed insulin-resistant hyperglycaemia. Patient 1 died, but patient 2, after a strong reduction of glucose administration, survived. To our knowledge, this is the only patient with this complication who survived. CONCLUSION: Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias is probably a marker of a serious disease. One patient with this complication survived after a strong reduction of glucose administration. Even if this is probably only a partial intervention, we hypothesize that in this situation a reduction of glucose administration can reduce almost the risk of persistent hyperglycaemia. Further studies are required to confirm our hypothesis.
Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/complicações , Hiperglicemia/etiologia , Acidemia Propiônica/complicações , Idade de Início , Erros Inatos do Metabolismo dos Aminoácidos/genética , Erros Inatos do Metabolismo dos Aminoácidos/metabolismo , Feminino , Humanos , Hiperglicemia/tratamento farmacológico , Hiperglicemia/metabolismo , Recém-Nascido , Resistência à Insulina , Masculino , Metilmalonil-CoA Descarboxilase/genética , Metilmalonil-CoA Mutase/genética , Acidemia Propiônica/genética , Acidemia Propiônica/metabolismoRESUMO
Neonatal pulmonary hypertension refractory to high frequency ventilation (HFOV) and inhaled nitric oxide (iNO) is an occasional occurrence. We report a full-term neonate with severe pulmonary hypertension unresponsive to the treatment with HFOV and iNO, later associated with prostacyclin, who rapidly improved after the addition of vecuronium, a neuromuscular blocker.