Acute onset of ornithine transcarbamylase deficiency after total anomalous pulmonary venous connection repair to a 2-day-old neonate.
Cardiol Young
; 33(9): 1775-1776, 2023 Sep.
Article
en En
| MEDLINE
| ID: mdl-37042609
ABSTRACT
Ornithine transcarbamylase deficiency is an X-linked disorder which results in the accumulation of ammonia causing irritability and vomiting. Acute hyperammonemia requires rapid and intensive intervention. However, as those clinical features are non-specific and commonly seen in peri-operative situation, ornithine transcarbamylase deficiency could be difficult to diagnose prior to and post-emergency cardiac surgery. We report a 2-day-old male neonate who was diagnosed with ornithine transcarbamylase deficiency presenting hyperammonemia and severe heart failure after total anomalous pulmonary venous connection repair.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedad por Deficiencia de Ornitina Carbamoiltransferasa
/
Hiperamonemia
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
Límite:
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Cardiol Young
Asunto de la revista:
ANGIOLOGIA
/
CARDIOLOGIA
/
PEDIATRIA
Año:
2023
Tipo del documento:
Article
País de afiliación:
Japón