Svensk definition
En autosomal, recessiv sjukdom med avsaknad av genuttryck av glukos-6-fosfatas, vilket resulterar i hypoglykemi pga utebliven glukosproduktion. Ansamling av glykogen i lever och njurar leder till förstorade organ, särskilt avsevärd förstoring av levern. Förhöjda halter av mjölksyra och fett (hyperlipidemi) förekommer i plasma. Klinisk gikt uppträder ofta tidigt i barnaåren.
Engelsk definition
An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.
Svenska synonymer
Glukos-6-fosfatasbrist — Glukosfosfatasbrist — Gierkes sjukdom — Glykogenos typ I — Glykogenos 1
Engelska synonymer
Gierke Disease — Disease, Gierke — Gierke's Disease — Disease, Gierke's — Gierkes Disease — Glucose-6-Phosphatase Deficiency — Deficiencies, Glucose-6-Phosphatase — Deficiency, Glucose-6-Phosphatase — Glucose 6 Phosphatase Deficiency — Glucose-6-Phosphatase Deficiencies — Glycogen Storage Disease 1 (GSD I) — Glycogenosis 1 — Hepatorenal Glycogen Storage Disease — von Gierke Disease — Disease, von Gierke — von Gierke's Disease — Disease, von Gierke's — von Gierkes Disease — Deficiency, Glucosephosphatase — Deficiencies, Glucosephosphatase — Glucosephosphatase Deficiencies — Glucosephosphatase Deficiency