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[Citrullinemia: management and clinical course. Apropos of a familial case]
1Service de pédiatrie, hôpital Nord, Saint-Priest-en-Jarez, France.
Pediatrie
|January 1, 1993
Insights
Two siblings with citrullinemia highlight the importance of early diagnosis and management. While severe neonatal forms have a poor prognosis, timely intervention can improve outcomes for this rare urea cycle disorder.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Citrullinemia is a rare autosomal recessive urea cycle disorder.
- It results from a deficiency in the enzyme argininosuccinate synthetase.
- This deficiency leads to the accumulation of ammonia and citrulline in the blood.
Observation:
- Two siblings presented with citrullinemia, adding to the 68 previously reported cases.
- The study reviews the clinical manifestations, diagnostic approaches, and treatment strategies for citrullinemia.
- The severe neonatal form of the disease carries a significant mortality rate.
Findings:
- Early and appropriate management is crucial for improving patient outcomes.
- Despite the poor prognosis of the severe neonatal form, timely intervention can lead to acceptable results.
- The literature review provides a comprehensive overview of the disease's presentation and management.
Implications:
- Highlights the need for prompt diagnosis and intervention in suspected cases of citrullinemia.
- Emphasizes the potential for improved outcomes with early and adequate therapeutic management.
- Contributes to the understanding of citrullinemia's clinical spectrum and management guidelines.
Abstract:
The authors report two cases of citrullinemia in siblings which add to 68 observations from the literature. They overview the clinical presentation, diagnosis and therapeutic management of the disease. The prognosis of severe neonatal form remains poor but an early adequate management may contribute to an acceptable outcome.