This study performed by 8 US sites included 183 patients. The data was obtained by interviews, physical examinations, neuropsychological testing and laboratory analyses. OTC deficiency was the most frequent condition. 39% of all patients had intellectual and developmental disabilities.
For more details on this very useful cross-sectional study, please refer to:
Mol Genet Metab. 2008 Aug;94(4):397-402. Epub 2008 Jun 17.
Cross-sectional multicenter study of patients with urea cycle disorders in the United States.
Tuchman M, Lee B, Lichter-Konecki U, Summar ML, Yudkoff M, Cederbaum SD, Kerr DS,
Diaz GA, Seashore MR, Lee HS, McCarter RJ, Krischer JP, Batshaw ML; Urea Cycle
Disorders Consortium of the Rare Diseases Clinical Research Network.
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator