Počet záznamov: 1
deficit fruktóza-1,6-bisfosfatázy
Heslo deficit fruktóza-1,6-bisfosfatázy Heslo anglicky Fructose-1,6-Diphosphatase Deficiency Odkazy deficit fruktóza-1,6-difosfatázy
deficit fruktózabifosfatázy
deficit hexózadifosfatázyAngl. X odkazy Fructose-1,6-Bisphosphatase Deficiency
Fructose-Biphosphatase Deficiency
Hexosediphosphatase DeficiencyVysvetľujúca pozn. v angl. An autosomal recessive fructose metabolism disorder due to absent or deficient fructose-1,6-diphosphatase activity. Gluconeogenesis is impaired, resulting in accumulation of gluconeogenic precursors (e.g., amino acids, lactate, ketones) and manifested as hypoglycemia, ketosis, and lactic acidosis. Episodes in the newborn infant are often lethal. Later episodes are often brought on by fasting and febrile infections. As patients age through early childhood, tolerance to fasting improves and development becomes normal. 
predmetové heslo
Počet záznamov: 1