Hepatic metabolites and uric excretion in fructose -1,6- diphosphatase deficiency

dc.creatorVelázquez, A.
dc.creatorDeVivo, D. C.
dc.creatorCostin, C.
dc.creatorShaw, K. N. F.
dc.creatorde Céspedes Montealegre, Carlos
dc.date.accessioned2017-05-19T14:14:04Z
dc.date.accessioned2019-04-25T15:00:14Z
dc.date.available2017-05-19T14:14:04Z
dc.date.available2019-04-25T15:00:14Z
dc.date.created2017-05-19T14:14:04Z
dc.date.issued1988
dc.identifierhttp://link.springer.com/article/10.1007/BF01800375
dc.identifier0141-8955
dc.identifier1573-2665
dc.identifierhttp://hdl.handle.net/10669/29651
dc.identifierdoi:10.1007/BF01800375
dc.identifier3148073
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/2377593
dc.description.abstractThere have been a small number of patients reported with inherited disorders of gluconeogenesis. We studied a female patient with fructose-1,6-diphosphatase (FDPase; EC 3.1.3.11) deficiency (McKusick 22970), born of consanguineous parents (inbreeding coefficient 1/32). Since 4 months of age, she presented with many episodes of ketosis, lactic acidosis and hypoglycaemia, which, on two occasions, were accompanied by seizures. Blood uric acid was abnormally high (0.485 mmol L-1) but below normal in urine (1.85 mmol g creatinine).
dc.languageen_US
dc.sourceJournal of Inherited Metabolic Disease; Volumen 11, Número 3. 1988
dc.subjectGlucose
dc.subjectCase studies
dc.subjectHypoglycaemia
dc.subjectGluconeogenesi
dc.titleHepatic metabolites and uric excretion in fructose -1,6- diphosphatase deficiency
dc.typeInformes técnico
dc.typeReporte técnico


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