Study of liver metabolism in glucose-6-phosphatase deficiency (glycogen storage disease type 1a) by p-31 magnetic resonance spectroscopy

ABSTRACT ABSTRACT: Liver metabolism of two patients (aged 15 and 23 yr) was studied by P-31 magnetic resonance spectroscopy at 1.9 tesla. The P-31 spectra of liver showed the resonances of

phosphomonoesters (including sugar phosphates), inorganic phosphate (Pi), phosphodiesters (_e.g._ glycerophosphorylcholine, glycerophosporylethanolamine), and ATP. These resonances were

quantified by expressing their peak areas in mM (assuming that ATP concentrations in normal liver is 2.5 mM) or as a ratio relative to the area of the phosphodiester resonance. After an

overnight fast liver phosphomonoesters in patients were 2.6 and 1.6 AU, respectively (controls 1.1 ± 0.5, mean ± 2 SD, _n_ = 17). At the same time liver Pi was decreased in patients to 1.3

and 1.0, respectively (controls 1.8 ± 0.8). Based on chemical shift measurements the increase in phosphomonoesters could be attributed to accumulation of sugar phosphates (mainly glycolytic

intermediates). After 1 g/kg oral glucose, hepatic sugar phosphates decreased in patients by 64 and 40%, respectively, and reached normal levels (on the absolute intensity scale); whereas

liver Pi increased by 130 and 40%, respectively. Liver Pi levels remained elevated in both patients 30 min after ingestion of glucose. Liver sugar phosphates and Pi did not change in control

subjects _(n_ = 4) after glucose. In contrast to some previous reports, we have found accumulation of glycolytic intermediates in the liver of glucose-6-phosphatase-deficient patients

during fasting. In these patients high levels may enhance the activity of residual glucose-6-phosphatase thus increasing hepatic glucose production and reducing the degree of hypoglycemia

during fasting. Hyperuricemia is another serious complication of glucose-6-phosphatase deficiency and was present in both patients. Levels of Pi are known to regulate synthesis and breakdown

purines. The changes in liver Pi during fasting and refeeding in these patients may stimulate production of uric acid and contribute to the hyperuricemia. SIMILAR CONTENT BEING VIEWED BY

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Radcliffe Hospital, Oxford and Institute of Child Health, London, England R D Oberhaensli, B Rajagopalan, D J Taylor, G K Radda, J E Collins & J V Leonard Authors * R D Oberhaensli View

author publications You can also search for this author inPubMed Google Scholar * B Rajagopalan View author publications You can also search for this author inPubMed Google Scholar * D J

Taylor View author publications You can also search for this author inPubMed Google Scholar * G K Radda View author publications You can also search for this author inPubMed Google Scholar *

J E Collins View author publications You can also search for this author inPubMed Google Scholar * J V Leonard View author publications You can also search for this author inPubMed Google

Scholar RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Oberhaensli, R., Rajagopalan, B., Taylor, D. _et al._ Study of Liver Metabolism in

Glucose-6-Phosphatase Deficiency (Glycogen Storage Disease Type 1A) by P-31 Magnetic Resonance Spectroscopy. _Pediatr Res_ 23, 375–380 (1988).

https://doi.org/10.1203/00006450-198804000-00007 Download citation * Received: 15 June 1987 * Accepted: 09 December 1987 * Issue Date: 01 April 1988 * DOI:

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