Abstract | AIM: To estimate the incidence of urea cycle diseases (UCDs) in Finland and determine the course of the various disorders as well as the outcome. METHODS: The original data were collected in the years 1998-2001. The diagnoses made after 2001, as well as the current status of the patients, were updated by surveys in the spring of 2007. RESULTS: CONCLUSION: The first survey on the incidence of UCDs in Finland shows some differences in the occurrence rates compared to other countries. Hyperammonaemia, and the neurological symptoms caused by it, can be avoided in most patients with late-onset UCDs with a standard treatment. However, in patients with ASL deficiency, the development of neurological symptoms seems to be inevitable in spite of careful treatment and avoidance of hyperammonaemia.
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Authors | Päivi Keskinen, Anna Siitonen, Matti Salo |
Journal | Acta paediatrica (Oslo, Norway : 1992)
(Acta Paediatr)
Vol. 97
Issue 10
Pg. 1412-9
(Oct 2008)
ISSN: 0803-5253 [Print] Norway |
PMID | 18616627
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
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Topics |
- Adolescent
- Adult
- Amino Acid Metabolism, Inborn Errors
(diagnosis, epidemiology, genetics, metabolism)
- Argininosuccinic Aciduria
- Carbamoyl-Phosphate Synthase I Deficiency Disease
(diagnosis, epidemiology)
- Child
- Child, Preschool
- Citrullinemia
(diagnosis)
- Female
- Finland
(epidemiology)
- Humans
- Hyperammonemia
(diagnosis, epidemiology)
- Hyperargininemia
(diagnosis, epidemiology)
- Incidence
- Infant
- Infant, Newborn
- Male
- Ornithine Carbamoyltransferase Deficiency Disease
(diagnosis, epidemiology, metabolism)
- Urea
(metabolism)
- Young Adult
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