Other Research Achievements

Basic information

Name Masaki Takayanagi
Belonging department Physical Therapy Major,Department of Rehabilitation,Faculty of Health Care and Medical Sports
Occupation name Professor
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Title 

Clinical Features of Carnitine Palmitoyltransferase II Deficiency: A Study of 20 Cases from 17 Familial Lines( with Peer Review)


					

					

						

							

								

									
Sole or Joint Author 

									
								

							

						

						
Joint Author

					

					

						

							

								

									
Date of Issue 

									
								

							

						

						
200806

					

					

						

							

								

									
Conference Presentation(name) 

									
								

							

						

						
Journal of the Japan Society for Mass Screening, Volume 18, Issue 1, Pages 43-49 (June 2008)"

					

					

						

							

								

									
Summary 

									
								

							

						

						
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.