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National Protocol for Diagnosis and Care (PNDS) Organic Acidurias: Methylmalonic Acidemia and Propionic Acidemia, Rare Diseases Network G2M, HAS, June 2020.

has been cited by the following article:

• 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.