Resumo

THERAN LEON, Juan Sebastian; ESTEBAN BADILLO, Laura Yibeth; DULCEY SARMIENTO, Luis Andrés  e  REINA MEJIA, Sergio David. Fructose-1,6 Bisphosphatase Deficiency: Cause of Severe Hypoglycemia in Young Adults. Gac Med Bol [online]. 2022, vol.45, n.1, pp.79-81. ISSN 1012-2966.  https://doi.org/10.47993/gmb.v45i1.353.

Fructose-1,6-bisphosphatase deficiency (FBPase deficiency) is a rare congenital metabolic defect affecting gluconeogenesis. It is an autosomal recessive genetic disease. The patient presents with fasting hypoglycemia and metabolic acidosis, and may have hyperventilation, apnea, hypoglycemia, and ketosis. Although the disease can be fatal in the neonatal period, appropriate treatment can produce an excellent prognosis. Here we present the case of a 21-year-old patient with fructose-1,6-bisphosphatase deficiency, who presented with viral gastroenteritis that caused decompensation of her underlying pathology, the patient presented satisfactory evolution with crystalloids and intravenous dextrose. This case is presented because of its low frequency, with few reports in adults and with adequate response to dietary treatment.

Palavras-chave : fructose-1,6-bisphosphatase deficiency; hypoglycemia; mutation.

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