Hepatic metabolites and uric excretion in fructose -1,6- diphosphatase deficiency
DeVivo, D. C.
Shaw, K. N. F.
de Céspedes Montealegre, Carlos
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There 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 22.214.171.124) 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).
Enlace externo al ítemdoi:10.1007/BF01800375
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