Toledo-Salinas O, Moreno-López I, Méndez-de Jesús IA, Facundo-Bazalua M, Hernández-Ortega HM, Baltazar-Torres JÁ

Language: Spanish
References: 0
Page: 171-178
PDF size: 240. Kb.

ABSTRACT

Background: Fructose 1-6 biphosphatase (FBPase) deficiency is an innate error of metabolism diagnosed in childhood by polymerase chain reaction with a clinical picture characterized by hyperventilation, hepatomegaly, hypoglycemia, severe metabolic acidosis and hyperlactatemia. Although it is found in the literature the description of cases of FBPase deficiency mainly in pediatric patients, to where best we know there are no reports of adult patients with this innate error of metabolism presenting refractory hypoglycemia crisis, severe metabolic acidosis, hyperlactatemia type B, difficulty breathing and hypovolemic circulatory shock meriting admission to an intensive care unit.
Clinical case: A 20-year-old male patient with FBPase deficiency complicated by severe metabolic acidosis secondary to type B hyperlactatemia and circulatory shock.
Conclusions: In Mexico there are no epidemiological reports of patients with FBPase deficiency and the bibliography is scarce or non-existent regarding these patients in adult life. Recurrent resistant hypoglycemia accompanied by severe elevated anion gap metabolic acidosis and type B hyperlactatemia is a life-threatening clinical condition associated with inborn errors of metabolism and requires comprehensive management in the intensive care unit.