Case Studies

Real-life published case studies from leading clinicians, with focus on tailored care pathways.

Urea Cycle Disorders | Organic Acidurias

Urea Cycle Disorders

N-carbamoylglutamate-responsive carbamoyl phosphate synthetase 1 (CPS1) deficiency: A patient with a novel CPS1 mutation and an experimental study on the mutation’s effects

Case report on a patient with genetically characterized partial but severe CPS1D due to homozygosity for the novel c.3632C>G, p.(Pro1211Arg) mutation that was controlled for a long period with merely oral NCG, arginine, and moderate protein restriction.

Yap et al. JIMD Rep. 2019;1–9

Normal neurological development during infancy despite massive hyperammonemia in early treated NAGS deficiency

A girl born at term was admitted to the neonatal intensive care unit because of mild respiratory distress after a complicated delivery. She recovered, but was readmitted at 58 h of life with mild respiratory distress and increased muscle tone.

Reigstad et al. JIMD Rep. 2017;37:45-47

Late-onset N-acetylglutamate synthase deficiency: Report of a paradigmatic adult case presenting with headaches and review of the literature

Case Report about a paradigmatic adult with late-onset N-acetylglutamate synthase deficiency, presenting with headaches, plus a review of the literature.

Cavicchi et al. Int J Mol Sci. 2018;19:345

N-acetylglutamate synthase deficiency due to a recurrent sequence variant in the N-acetylglutamate synthase enhancer region

The authors of this paper describe a novel sequence in the NAGS enhancer that was found in three patients from two families with NAGSD. Their findings underscore the importance of analyzing NAGS gene regulatory regions when looking for molecular causes of NAGSD.

Williams et al. Scientific Reports. 2018;8:15436

Organic Acidurias

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

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-carbamyl glutamate was initiated.

Tummolo et al. Journal of Medical Case Reports. 2018;12:103

N-carbamylglutamate is an effective treatment for acute neonatal hyperammonaemia in a patient with methylmalonic aciduria

Use of N-carbamylglutamate, together with aggressive nutritional management, in a neonate presenting with severe hyperammonaemia secondary to methylmalonic aciduria.

Yap et al. Neonatology 2016;109:303-307

Hyperammonaemia in classic organic acidaemias: A review of the literature and two case histories

This article outlines how the underlying pathophysiology and biochemistry of the organic acidaemias are closely linked to their clinical presentation and management, and provides practical advice for decision-making during early, acute hyperammonaemia and metabolic decompensation in neonates and infants with organic acidaemias.

Haberle et al. Orphanet Journal of Rare Diseases. 2018;13:219