[Mitochondrial acetoacetyl-CoA thiolase deficiency: neonatal onset]. / Déficit de acetoacetil-CoA tiolasa mitocondrial: inicio en el período neonatal.

We present the case of a 4-day-old newborn with serious dehydration, polypnea, hypertonus and lethargy. Blood analysis showed severe metabolic acidosis with ketonemia, ketonuria and elevation of the GAP anion. Urine analysis revealed increased excretion of 2-methyl-3-hydroxybutyrate acid, tiglycine, and 2-methylacetoacetate acid. Neonatal onset of mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is exceptional. Most patients have no clinical symptoms in the neonatal period. This entity should be considered in patients with acute metabolic acidosis and ketosis with normal glycemia and aciduria. The urine contains large amounts of 2-methylacetoacetate and its decarboxylation products. In the neonatal period, this inherited disorder of metabolism can produce severe hydroelectrolyte disorders in the form of a gradual process or acute episodes, which can occasionally be fatal.

Déficit de acetoacetil-CoA tiolasa mitocondrial: inicio en el período neonatal / Mitochondrial acetoacetyl-CoA Thiolase deficiency: neonatal onset

Presentamos el caso de un recién nacido de cuatro días de vida con deshidratación grave, polipnea, hipertonía y letargia. Los exámenes complementarios revelaron una acidosis metabólica grave con cetonemia, cetonuria y aumento del anión GAP. El análisis de orina reveló una excreción aumentada de ácido 2-metil-3-hidroxibutirato, tiglicina y 2-metilacetoacetato. El inicio neonatal del déficit de acetoacetil-CoA tiolasa (T2) es muy infrecuente. En la mayoría de los casos, los pacientes no presentan clínica en el período neonatal. Debemos pensar en esta entidad cuando un paciente presente una acidosis metabólica aguda, cetosis con glucemia normal y aciduria. La orina presenta aumento de las concentraciones de 2-metilacetoacetato y sus productos de descarboxilación. Este error innato del metabolismo en período neonatal puede producir graves alteraciones hidroelectrolíticas en forma de un proceso gradual o agudo que ocasionalmente puede causar la muerte del paciente

We present the case of a 4-day-old newborn with serious dehydration, polypnea, hypertonus and lethargy. Blood analysis showed severe metabolic acidosis with ketonemia, ketonuria and elevation of the GAP anion. Urine analysis revealed increased excretion of 2-methyl-3-hydroxybutyrate acid, tiglycine, and 2-methylacetoacetate acid. Neonatal onset of mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is exceptional. Most patients have no clinical symptoms in the neonatal period. This entity should be considered in patients with acute metabolic acidosis and ketosis with normal glycemia and aciduria. The urine contains large amounts of 2-methylacetoacetate and its decarboxylation products. In the neonatal period, this inherited disorder of metabolism can produce severe hydroelectrolyte disorders in the form of a gradual process or acute episodes, which can occasionally be fatal