title: 3-methyglutaconic aciduria in a Chinese patient with glycogen storage disease Ib.
abstract: 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 acid excretion correlated with plasma lactate and glucose. We speculate that imbalanced gluconeogenesis and de novo cholesterol synthesis result in secondarily increased 3MGC/3MGR production.
authors.affiliation: Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, N.T., Hong Kong, SAR. lklaw@mailserv.med.cuhk.edu.hk
authors.forename: L K
authors.initials: LK
authors.lastname: Law
authors.forename: N L S
authors.initials: NL
authors.lastname: Tang
authors.forename: J
authors.initials: J
authors.lastname: Hui
authors.forename: C W K
authors.initials: CW
authors.lastname: Lam
authors.forename: T F
authors.initials: TF
authors.lastname: Fok
mesh_terms: D000293:Adolescent; D001786:Blood Glucose / Q000378:metabolism; D002784:Cholesterol / Q000096:biosynthesis; D004247:DNA / Q000235:genetics; D004032:Diet; D005943:Gluconeogenesis / Q000502:physiology; D005953:Glycogen Storage Disease Type I / Q000178:diet therapy / Q000652:urine*; D006801:Humans; D019344:Lactic Acid / Q000097:blood; D008297:Male; D015093:Meglutol / Q000031:analogs & derivatives* / Q000652:urine
chemical_list: D001786:Blood Glucose; D019344:Lactic Acid; C033686:3-methylglutaric acid; D004247:DNA; D002784:Cholesterol; D015093:Meglutol