Case Report: 3-Methyglutaconic Aciduria in a Chinese Patient with Glycogen Storage Disease Ib
| Autor: | Nelson L.S. Tang, L. K. Law, Joannie Hui, Tai Fai Fok, CW Lam |
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| Rok vydání: | 2003 |
| Předmět: |
Cholesterol synthesis
medicine.medical_specialty business.industry Carbohydrate medicine.disease Excretion Endocrinology Urinary excretion Gluconeogenesis Internal medicine Glycogen Storage Disease IB Genetics medicine Glycogen storage disease Congenital adrenal hyperplasia business Genetics (clinical) |
| Zdroj: | Journal of Inherited Metabolic Disease. 26:705-709 |
| ISSN: | 0141-8955 |
| DOI: | 10.1023/b:boli.0000005603.04633.21 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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