Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via
- Resource Type
- Authors
- Keiichi, Sugihara; Miori, Yuasa; Yuko, Isozaki; Ikue, Hata; Yusei, Ohshima; Takashi, Hamazaki; Toshihiko, Kakiuchi; Masato, Arao; Noboru, Igarashi; Yumiko, Kotani; Tokiko, Fukuda; Reiko, Kagawa; Go, Tajima; Yosuke, Shigematsu
- Source
- Pediatric research. 92(5)
- Subject
- Adult
Carnitine
Fatty Acids
Leukocytes, Mononuclear
Humans
Oleic Acids
Stearic Acids
- Language
- ISSN
- 1530-0447
The clinical severity of very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is difficult to predict using conventional diagnostic methods.Peripheral blood mononuclear cells obtained from 14 VLCAD deficiency patients and 23 healthy adults were loaded with carbon-13-universally labeled (U-There was a significant decrease in theOur data indicated that this method could be used to predict the clinical severity of VLCAD deficiency, and identify patients at a risk of severe disease.We established a novel method to predict the severity of VLCAD deficiency by performing a loading test with carbon-13-labeled fatty acids on peripheral blood mononuclear cells. The U