Urinary sugar phosphates and related organic acids in fructose-1,6-diphosphatase deficiency.

Abstract

Two sisters with fructose-1,6-diphosphatase deficiency are reported. They presented with ketonuria, elevated plasma transaminase activity and severe metabolic acidosis during hypoglycaemic crises, which resembled Reye syndrome. Intravenous fructose tolerance tests provoked severe hypoglycaemia and metabolic acidosis. Fructose-1,6-diphosphatase activities in both peripheral leukocytes and cultured lymphocytes were below the limit of detection. Urinary organic acid analysis during crises revealed markedly increased excretion of lactate, ketone bodies, glycerol and glycerol-3-phosphate. We newly identified other glycolytic intermediates, glyceraldehyde, 3-phosphoglycerate and fructose-1,6-diphosphate, in the urine during hypoglycaemic attacks or after fructose tolerance tests. Identification of such compounds may be useful in the early diagnosis of this disease.

• Authors: A Nakai, Y Shigematsu, Y Y Liu, Y Kikawa, M Sudo
• Journal: Journal of inherited metabolic disease (J Inherit Metab Dis) Vol. 16 Issue 2 Pg. 408-14 ( 1993) ISSN: 0141-8955 [Print] United States
• PMID: 8412001 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Fructosediphosphates
• Glyceric Acids
• Glycerophosphates
• Ketone Bodies
• Lactates
• Sugar Phosphates
• Lactic Acid
• Glyceraldehyde
• 3-phosphoglycerate
• fructose-1,6-diphosphate
• Glycerol

Topics

• Female
• Fructose-1,6-Diphosphatase Deficiency (urine)
• Fructosediphosphates (urine)
• Glyceraldehyde (urine)
• Glyceric Acids (urine)
• Glycerol (urine)
• Glycerophosphates (urine)
• Humans
• Infant
• Infant, Newborn
• Japan
• Ketone Bodies (urine)
• Lactates (urine)
• Lactic Acid
• Leukocytes (enzymology)
• Lymphocytes (enzymology)
• Sugar Phosphates (urine)