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Ketolytic Defects in Children and Adolescents  

Choi, Joong Wan (Department of Pediatrics, Hallym University Medical Center)
Ahn, Seok Min (Department of Pediatrics, Hallym University Medical Center)
Kim, Young Han (Department of Pediatrics, Hallym University Medical Center)
Baek, Joon Woo (Department of Pediatrics, Hallym University Medical Center)
Ryu, Hye Won (Department of Pediatrics, Hallym University Medical Center)
Bae, Eun Joo (Department of Pediatrics, Hallym University Medical Center)
Lee, Hong Jin (Department of Pediatrics, Hallym University Medical Center)
Publication Information
Journal of The Korean Society of Inherited Metabolic disease / v.15, no.3, 2015 , pp. 147-154 More about this Journal
Abstract
Purpose: 3HB and AcAc are two ketone bodies that can be used as energy source in brain via succinyl-CoA:3-ketoacid CoA transferase (SCOT) and mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase, T2), called ketolysis. In case of malfunction of these enzymes, ketolysis cannot occur fluently causing various clinical manifestations. We want to know the numbers of patients and clinical manifestations of ketolytic defects in Korea. Material: For 67 patients of ketolytic defects out of 2794 patients that have done urine organic acid analysis, we analyzed clinical manifestations and age distribution. The study period was from January 2007 to September 2015. Method: To confirm persistency of ketonuria, repeated and loading organic acid analysis were done at least 1 week period interval. SPSS was used for statistical analysis. Result: Thirty patients in infantile period (2 M-2 Y), 31 patients in childhood period (2 Y-12 Y), 5 patients after adolescent period (>12 Y) and 1 in neonatal period were diagnosed during the study period. The most frequent chief complaint was seizure followed by seizure with developmental delay and developmental delay only. Conclusion: Ketolytic defects were not so rare in Korea. Major clinical manifestations are seizure and developmental delay or mental retardation.
Keywords
Ketolytic defect; Succinyl-CoA:3-ketoacid CoA transferase (SCOT); Mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase, T2); Seizure; Developmental delay;
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