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.

journal_name

J Inherit Metab Dis

authors

Law LK,Tang NL,Hui J,Lam CW,Fok TF

doi

10.1023/b:boli.0000005603.04633.21

keywords:

subject

Has Abstract

pub_date

2003-01-01 00:00:00

pages

705-9

issue

7

eissn

0141-8955

issn

1573-2665

pii

5146694

journal_volume

26

pub_type

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