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Long-term continuous N-carbamylglutamate treatment in frequently decompensated propionic acidemia: a case report.


ABSTRACT: Propionic acidemia is a rare autosomal recessive inherited metabolic disorder that can inhibit the synthesis of N-acetylglutamate, the obligatory activator in urea synthesis, leading to hyperammonemia. N-carbamylglutamate ameliorates hyperammonemia in decompensated propionic acidemia. The effects of long-term continuous N-acetylglutamate administration in such patients are unknown. We report our clinical experience with continuous administration of N-acetylglutamate for 6 years in a patient with propionic acidemia frequently presenting with hyperammonemia.A male Caucasian patient with frequently decompensated propionic acidemia and hyperammonemia was admitted 78 times for acute attacks during the first 9 years of his life. Continuous daily treatment with oral N-carbamylglutamate 100 mg/kg (50 mg/kg after 6 months) was initiated. During 6 years of treatment, he had a significant decrease in his mean plasma ammonia levels (75.7 ?mol/L vs. 140.3 ?mol/L before N-carbamylglutamate therapy, p < 0.005 [normal range 50-80 ?mol/L]) and fewer acute episodes (two in 6 years).Our results suggest a benefit of N-acetylglutamate administration outside the emergency setting. If this observation is confirmed, future studies should aim to optimize the dosage and explore effects of the dosage requirements on other drugs and on protein tolerance.

SUBMITTER: Tummolo A 

PROVIDER: S-EPMC5911373 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature

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Long-term continuous N-carbamylglutamate treatment in frequently decompensated propionic acidemia: a case report.

Tummolo Albina A   Melpignano Livio L   Carella Antonella A   Di Mauro Anna Maria AM   Piccinno Elvira E   Vendemiale Marcella M   Ortolani Federica F   Fedele Stefania S   Masciopinto Maristella M   Papadia Francesco F  

Journal of medical case reports 20180422 1


<h4>Background</h4>Propionic acidemia is a rare autosomal recessive inherited metabolic disorder that can inhibit the synthesis of N-acetylglutamate, the obligatory activator in urea synthesis, leading to hyperammonemia. N-carbamylglutamate ameliorates hyperammonemia in decompensated propionic acidemia. The effects of long-term continuous N-acetylglutamate administration in such patients are unknown. We report our clinical experience with continuous administration of N-acetylglutamate for 6 year  ...[more]

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