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Hereditary urea cycle diseases in Finland
Päivi Keskinen1, Anna Siitonen, Matti Salo
1Department of Pediatrics, Tampere University Hospital, Tampere, Finland. paivi.keskinen@uta.fi
Acta Paediatrica (Oslo, Norway : 1992)
|July 12, 2008
Summary
Urea cycle diseases (UCDs) affect 1 in 39,000 in Finland, with ornithine transcarbamylase deficiency being most common. Many patients experience neurological symptoms, and mortality is high, especially during hyperammonaemic crises.
Area of Science:
- Metabolic disorders
- Genetics
- Clinical research
Background:
- Urea cycle diseases (UCDs) are rare genetic disorders affecting nitrogen metabolism.
- Accurate incidence data is crucial for understanding disease burden and resource allocation.
Purpose of the Study:
- To estimate the incidence of UCDs in Finland.
- To describe the clinical course and outcomes of patients with UCDs.
Main Methods:
- Retrospective data collection from 1998-2001.
- Updated patient status and diagnoses via surveys in 2007.
Main Results:
- Identified 55 UCD cases: 30 ornithine transcarbamylase (OTC) deficiency, 20 argininosuccinate lyase (ASL) deficiency.
- Overall UCD incidence: 1:39,000; OTC deficiency: 1:62,000.
- Mortality rate of 33%, often during hyperammonaemic crisis; neurological symptoms are common, especially in ASL deficiency.
Conclusions:
- Finnish UCD incidence differs from other countries.
- Standard treatment can prevent hyperammonaemia and neurological symptoms in most late-onset UCDs.
- Neurological symptoms appear unavoidable in ASL deficiency despite treatment.
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