Glycerol-3-phosphate excretion in fructose-1,6-diphosphatase deficiency.
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.
D002239:Carbohydrate Metabolism, Inborn Errors / Q000201:enzymology* / Q000652:urine; D005260:Female; D015319:Fructose-1,6-Diphosphatase Deficiency; D005994:Glycerophosphates / Q000652:urine*; D006801:Humans; D007003:Hypoglycemia / Q000652:urine; D007223:Infant
D005994:Glycerophosphates; C029620:alpha-glycerophosphoric acid