[Ornithine carbamoyltransferase deficiency. A clinical case].

Abstract

Disorders of urea cycle account for up to 60% of severe neonatal hyperamoniemias. The base of this cycle disorders results in a deficit of its enzymes. Deficiency of the enzyme ornithine transcarbamylase is the most frequently detected. The prognosis depends on the degree of enzyme deficiency, age, early diagnosis and initiation of treatment. We report the case of a teenager who was treated with prednisone because of a peripheral facial palsy. He showed a progressive worsening and died a few days later. The high levels of ammonia made suspect a congenital disorder of urea cycle. The postmortem genetic study confirmed it. We studied the family and advised carriers. We reflect about the importance of the neonatal screening programs and their applicability for detection of inborn errors of metabolism.

• Authors: Gonzalo Herráiz Gastesi, Oscar Esteban Jiménez, María Jesús Blasco Pérez-Aramendía, María Carmen Martínez Raposo-Piedrafita, Ana Delia Cebollada Gracia, Ana Lloris Moraleja
• Journal: Archivos argentinos de pediatria (Arch Argent Pediatr) Vol. 113 Issue 2 Pg. e94-7 (Apr 2015) ISSN: 1668-3501 [Electronic] Argentina
• Vernacular Title: Déficit de ornitina transcarbamilasa. Caso clínico.
• PMID: 25727841 (Publication Type: Case Reports, Journal Article)

Topics

• Adolescent
• Fatal Outcome
• Humans
• Male
• Ornithine Carbamoyltransferase Deficiency Disease (diagnosis)