3-methylglutaconic aciduria in a Chinese patient with glycogen storage disease Ib
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摘要We report elevated urinary excretion of 3-methylglutaconic (3MGC) and 3-methylglutaric acids (3MGR) in a patient with glycogen storage disease Ib. Combined excretion was 10-fold elevated in comparison to control during inadequate glucose maintenance, and still elevated following dietary improvement. 3MGC excretion correlated with plasma lactate and glucose. We speculate that imbalanced gluconeogenesis and de novo cholesterol synthesis result in secondarily increased 3MGC/3MGR production.
著者Law LK, Tang NLS, Hui J, Lam CWK, Fok TF
期刊名稱Journal of Inherited Metabolic Disease
出版年份2003
月份1
日期1
卷號26
期次7
出版社KLUWER ACADEMIC PUBL
頁次705 - 709
國際標準期刊號0141-8955
語言英式英語
Web of Science 學科類別Endocrinology & Metabolism; ENDOCRINOLOGY & METABOLISM; Genetics & Heredity; GENETICS & HEREDITY

上次更新時間 2020-18-10 於 00:12