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