Glycerol‐3‐phosphate excretion in fructose‐1,6‐diphosphatase deficiency
- 25 February 1986
- journal article
- research article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 9 (4) , 388-392
- https://doi.org/10.1007/bf01800490
Abstract
A patient aged 23 months with fructose-1,6-diphosphatase deficiency is reported. This infant demonstrated an increased urine excretion of glycerol-3-phosphate during episodes of hypoglycaemia. The excretion of this compound has not previously been described in this disease or in those disorders associated with a deficiency in one of the other three gluconeogenic enzymes associated with hypoglycaemia. Its presence in the urine from patients may be useful in diagnosis.Keywords
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