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2021, Number 3

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Acta Pediatr Mex 2021; 42 (3)

Propionic acidemic in preterm baby with associated infection. A case report

Saldaña-García, Natalia; López-Castillo, María del Carmen; Muñoz-Cruzado-Rosete, Adrián; Sánchez-Tamayo, Tomás

Language: Spanish
References: 18
Page: 112-120
PDF size: 215.87 Kb.


ABSTRACT

Background: Organic acidemias account for 30% of inborn errors of metabolism and can be fatal in the neonatal period.
Clinical case: Newborn, born by emergency cesarean section due to placenta previa with maternal hemorrhage without infectious risk factors at 32 weeks of gestation, weighing 1970 grams. Nosocomial infection was diagnosed and due to the lack of response to antibiotics, a hemogram was requested, which reported, as outstanding data: hyperammonemia of 1920 M/L. He was left fasting and was started on high intravenous glucose, invasive ventilatory support, treatment with ammonium chelators and extrarenal depuration. Despite treatment, he died 13 hours after diagnosis of hyperammonemia on the fourth day of life. The biochemical study reported: elevation of 3-hydroxypropionic acid, methylcitric acid, propionylglycine in urine and propionylcarnitine and decrease of free carnitine in blood, which confirmed the diagnosis of propionic acidemia. Genetic analysis revealed a homozygous pathogenic mutation in the PCCB gene. Autopsy revealed: Enterobacter cloacae pulmonary infection and metabolopathy as cause of death.
Conclusions: Propionic acidemia results from a deficit of propionyl-CoA carboxylase involved in the propionate metabolic pathway. It is an autosomal recessive disease, due to mutation in the PCCA and/or PCCB genes. The most frequent presentation is neonatal, with nonspecific symptoms in the first week. Thus, in the case of a neonate with nonspecific symptoms, with inadequate response to treatment, despite finding a cause that justifies the picture, a metabolic disease should be suspected.


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