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Campbell R Hommes FA (1985)
Biochemical observation on a case of hepatic fructose-1,6-diphosphatase deficiencyJ Inherited Metab Dis, 8
Katz G Krywawych S (1986)
Glycerol-3-phosphate excretion in fructose-1,6-diphosphatase deficiencyJ Inherited Metab Dis, 9
O. Lowry, N. Rosebrough, A. Farr, R. Randall (1951)
Protein measurement with the Folin phenol reagent.The Journal of biological chemistry, 193 1
Steinman B Gitzelman R (1983)
The Metabolic Basis of Inherited Disease
L. Baker, L. Baker, A. Winegrad, A. Winegrad (1970)
Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity.Lancet, 2 7662
Racker E (1962)
Fructose-1,6-diphosphate from spinach leavesMethods in Enzymology, 5
StifelFB Greene HL (1972)
'Ketotic hypoglycemia' due to hepatic fructose-1,6-diphosphatase deficiencyAJDC, 124
R. Gitzelmann, B. Steinmann, G. Berghe (1983)
Essential fructosuria, hereditary fructose intolerance, and fructose-1,6-diphosphatase deficiency
D. Alexander, M. Assaf, A. Khudr, I. Haddad, A. Barakat (1985)
Fructose-1,6-diphosphatase deficiency: Diagnosis using leukocytes and detection of heterozygotes with radiochemical and spectrophotometric methodsJournal of Inherited Metabolic Disease, 8
Abstract Sir.—Fructose - 1,6 - diphosphatase (FDPase, EC 3.1.3.11) deficiency was first described in 1970.1 More than 40 patients have been described since then,2-6 and probably more will be diagnosed as the awareness of this disorder increases among clinicians. Most cases were reported in young patients, and although prognosis in these cases seemed favorable, follow-up to adulthood is still lacking. The diagnosis of FDPase deficiency has usually been established by liver biopsy, since enzyme activity is undetectable in cultured skin fibroblasts and is extremely low in white blood cells of normal subjects.3 Herein we present a 20-year follow-up of a patient known to suffer from FDPase deficiency. Enzyme activity in the patient and his family were determined from an intestinal tissue specimen. Patient Report.—A 22-year-old man, the first child of non-consanguineous parents of Jewish-Vemenite extraction, had normal growth and development until 20 months of age, when an intercurrent References 1. Baker L, Wingrad AI: Fasting hypoglycemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity . Lancet 1970;2:13-16.Crossref 2. Alexander D, Assaf M, Khundr A, et al: Fructose-1,6-diphosphatase deficiency: Diagnosis using leukocytes and detection of heterozygotes with radiochemical and spectrophotometric methods . J Inher Metab Dis 1985;8:174-177.Crossref 3. Gitzelman R, Steinman B, Berghe GVD: Essential fructosuria, hereditary fructose intolerance and fructose-1,6-diphosphatase deficiency , in Stanbury JB, Wyngaarden JB, Fredrickson DS, et al (eds): The Metabolic Basis of Inherited Disease . New York, McGraw-Hill International Book Co, 1983, ed 5, pp 118-140. 4. Hommes FA, Campbell R, Steinart C, et al: Biochemical observation on a case of hepatic fructose-1,6-diphosphatase deficiency . J Inherited Metab Dis 1985;8:169-173.Crossref 5. Kinugasa A, Furukawa N, Kodo N, et al: Ten years follow-up study on a patient with fructose-1,6-diphosphatase deficiency. Read before the Fourth International Congress of Inborn Errors of Metabolism, Sendai, Japan, May 23-27, 1985. 6. Krywawych S, Katz G, Lawson AM, et al: Glycerol-3-phosphate excretion in fructose-1,6-diphosphatase deficiency . J Inherited Metab Dis 1986;9:388-392.Crossref 7. Racker E: Fructose-1,6-diphosphate from spinach leaves , in Colomick SP, Kaplan NO (eds): Methods in Enzymology . New York, Academic Press Inc, 1962, vol 5, pp 272-276. 8. Lowry OH, Rosebrough NJ, Farr AL, et al: Protein measurement with the folin phenol reagent . J Biol Chem 1951;193:265-275. 9. Greene HL, StifelFB, Herman RH: 'Ketotic hypoglycemia' due to hepatic fructose-1,6-diphosphatase deficiency . AJDC 1972;124:415-418.
American Journal of Diseases of Children – American Medical Association
Published: Feb 1, 1989
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