Fructose-1,6 Bisphosphatase Deficiency: Cause of Severe Hypoglycemia in Young Adults
DOI:
https://doi.org/10.47993/gmb.v45i1.353Keywords:
fructose-1,6-bisphosphatase deficiency, hypoglycemia, , mutationAbstract
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.
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