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Basic information |
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Name |
Masaki Takayanagi |
Belonging department |
Physical Therapy Major,Department of Rehabilitation,Faculty of Health Care and Medical Sports |
Occupation name |
Professor |
researchmap researcher code |
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researchmap agency |
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Clinical Features of Carnitine Palmitoyltransferase II Deficiency: A Study of 20 Cases from 17 Familial Lines( with Peer Review)
Conference Presentation(name) |
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Journal of the Japan Society for Mass Screening, Volume 18, Issue 1, Pages 43-49 (June 2008)"
We studied 20 cases from 17 families with carnitine palmitoyltransferase II deficiency (CPTII deficiency) among Japanese individuals. Among them, 16 cases were identified through high-risk screening, 3 cases through family searches, and 1 case through newborn mass screening. Among all cases, 11 were of the systemic type, and all of them were pediatric cases. There were 5 cases of the muscular type, including 4 adult cases and 1 pediatric case. Two cases resulted in fatalities. However, we identified two families with deceased siblings diagnosed with Reye-like syndrome through family searches. Although CPTII deficiency is a potentially fatal condition, the prognosis is favorable if appropriately managed after diagnosis. The effectiveness of newborn mass screening was considered significant in improving the prognosis of CPTII deficiency.
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