3-methyglutaconic aciduria in a Chinese patient with glycogen storage disease Ib.
L K Law, N L S Tang, J Hui, C W K Lam, T F Fok
Index: J. Inherit. Metab. Dis. 26(7) , 705-9, (2003)
Full Text: HTML
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.
Related Compounds
Related Articles:
Age-related reference values for urinary organic acids in a healthy Turkish pediatric population.
1994-06-01
[Clin. Chem. 40(6) , 862-6, (1994)]
Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression.
2009-02-12
[Nature 457(7231) , 910-4, (2009)]
2006-04-01
[NMR Biomed. 19(2) , 271-8, (2006)]
3-Methylglutaconyl-coenzyme-A hydratase deficiency: a new case.
1992-01-01
[J. Inherit. Metab. Dis. 15(3) , 363-6, (1992)]
Urinary organic acid screening in children with developmental language delay.
1999-10-01
[J. Inherit. Metab. Dis. 22(7) , 815-20, (1999)]