TITLE:
Propionic Acidemia with Neonatal Presentation: A Case with Fatal Outcome
AUTHORS:
Serigne Tawa Ndiaye, Mohameth Mbodj, Ibrahima Niang
KEYWORDS:
Propionic Acidemia, Hyperammonemia, Newborn, Metabolic Decompensation, Encephalopathy
JOURNAL NAME:
Open Journal of Pediatrics,
Vol.15 No.6,
November
21,
2025
ABSTRACT: Propionic acidemia is an autosomal recessive disorder of branched-chain amino acid metabolism, manifested by episodes of metabolic acidosis, hyperammonemia, and encephalopathy. This article reports the case of a female newborn with propionic acidemia presenting an unusually severe neonatal phenotype. This newborn, born to consanguineous parents, developed massive hyperammonemia without initial metabolic acidosis, leading to rapid neurological deterioration. Despite intensive treatment including hemodiafiltration, the infant died on day 32, highlighting the severity of the disease and the need for early diagnosis and genetic counseling.