Fructose-1,6-Diphosphatase Deficiency

Fruktos-1,6-difosfatasbrist

Svensk definition

En autosomalt recessiv fruktosomsättningssjukdom, beroende på utebliven eller bristande fruktos-1,6-difosfatasverkan. Glukoneogenesen är defekt, vilket leder till ansamling av prekursorämnen (t ex aminosyror, laktat, ketoner), och hypoglycemi, ketos och laktacidos. Fall hos nyfödda har ofta dödlig utgång. Senare episoder utlöses ofta av fasta och infektioner med feber. Efter tidig barndom förbättras patienternas tolerans för fastande, och utvecklingen normaliseras.

Engelsk definition

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.

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

Deficiencies, Fructose-1,6-Diphosphatase Deficiency, Fructose-1,6-Diphosphatase Fructose-1,6-Diphosphatase Deficiencies Fructosediphosphatase Deficiency Deficiencies, Fructosediphosphatase Deficiency, Fructosediphosphatase Fructosediphosphatase Deficiencies Fructose-Biphosphatase Deficiency Deficiencies, Fructose-Biphosphatase Deficiency, Fructose-Biphosphatase Fructose Biphosphatase Deficiency Fructose-Biphosphatase Deficiencies Fructose-1,6-Bisphosphatase Deficiency Deficiencies, Fructose-1,6-Bisphosphatase Deficiency, Fructose-1,6-Bisphosphatase Fructose 1,6 Bisphosphatase Deficiency Fructose-1,6-Bisphosphatase Deficiencies Fructose 1,6 Diphosphatase Deficiency Deficiency, Hexosediphosphatase Deficiencies, Hexosediphosphatase Hexosediphosphatase Deficiencies Hexosediphosphatase Deficiency