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Título

USE OF CARGLUMIC ACID IN PROPIONIC ACIDEMIA: A CASE REPORT

Apresentação do caso

The case is about a 1 year and 9 month old infant, child of consanguineous parents, born at term, Apgar 9/10, with respiratory distress, vomiting and hypoactivity starting at 48 hours of life, laboratory tests were performed that showed severe metabolic acidosis, in addition to not being suggestive of infection and blood culture without microorganisms growth. At the time, a measurement of organic acids in urine, amino acids in plasma and acylcarnitine profile on filter paper were gathered, with results suggestive of propionic acidemia, which was confirmed with molecular examination showing a mutation in the PCCA gene in homozygosity. The patient sporadically presented vomiting and hypoactivity associated with hyperammonemia, and then during one of these episodes, on 05/27/2022, carglumic acid was started and the patient showed significant improvement of these symptoms and ammonia within normal range.

Discussão

Carglumic acid is a synthetic analogue of N-acetylglutamate (NAG) synthase, an enzyme produced by the liver that activates carbamoyl-phosphate synthetase I (CPS-I), the enzyme of the first limiting step of the urea cycle, stimulating ureagenesis. It is indicated for the treatment of hyperammonemia in patients with NAGS deficiency or patients with isovaleric, methylmalonic, or propionic organic acidemia, which affect NAG function. In case of patients with organic acidemia, it should be used during hyperammonemia crises, as high levels of ammonia can cause neurological complications, coma, and even death.

Comentários finais

Patients with isovaleric, methylmalonic, or propionic organic acidemias constantly present hyperammonemia during infectious processes, prolonged fasting, or protein intake above limit. The use of carglumic acid can thus help reduce morbidity and mortality in these patients and improve their quality of life.

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Área

Erros inatos do metabolismo