Literature DB >> 14707520

3-methyglutaconic aciduria in a Chinese patient with glycogen storage disease Ib.

L K Law1, N L S Tang, J Hui, C W K Lam, T F Fok.   

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.

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Year:  2003        PMID： 14707520     DOI： 10.1023/b:boli.0000005603.04633.21

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  14 in total

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5.  Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria.

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Review 9.  Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex.

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Review 6.  The 3-methylglutaconic acidurias: what's new?

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7.  Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?

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