En autosomalt recessiv sjukdom förorsakad av brist på enzymet glukosylceramidas, vilket medför ansamling av glykosylceramid huvudsakligen i mononukleära fagocyter. De typiska Gauchercellerna, glykosfingolipidfyllda histiocyter, tränger undan normala celler i benmärg och invärtes organ vilket orsakar skelettförsämring, hepatosplenomegali och organsvikt. Det finns flera undergrupper baserade på närvaro och svårighetsgrad av neurologisk inblandning.
An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.
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Disease, Gaucher — Glucocerebrosidase Deficiency — Deficiencies, Glucocerebrosidase — Deficiency, Glucocerebrosidase — Glucocerebrosidase Deficiencies — Gauchers Disease — Disease, Gauchers — Diseases, Gauchers — Gauchers Diseases — Glucocerebrosidosis — Glucocerebrosidoses — Glucosyl Cerebroside Lipidosis — Cerebroside Lipidoses, Glucosyl — Cerebroside Lipidosis, Glucosyl — Glucosyl Cerebroside Lipidoses — Lipidoses, Glucosyl Cerebroside — Lipidosis, Glucosyl Cerebroside — Glucosylceramidase Deficiency — Glucosylceramide Beta-Glucosidase Deficiency — Glucosylceramide Lipidosis — Glucosylceramide Lipidoses — Lipidoses, Glucosylceramide — Lipidosis, Glucosylceramide — Kerasin Histiocytosis — Histiocytoses, Kerasin — Histiocytosis, Kerasin — Kerasin Histiocytoses — Kerasin Lipoidosis — Kerasin Lipoidoses — Lipoidoses, Kerasin — Lipoidosis, Kerasin — Kerasin thesaurismosis — Kerasin thesaurismoses — thesaurismoses, Kerasin — thesaurismosis, Kerasin — Lipoid Histiocytosis (Kerasin Type) — Histiocytoses, Lipoid (Kerasin Type) — Histiocytosis, Lipoid (Kerasin Type) — Lipoid Histiocytoses (Kerasin Type) — Gaucher's Disease — Disease, Gaucher's — Cerebroside Lipidosis Syndrome — Cerebroside Lipidosis Syndromes — Lipidosis Syndrome, Cerebroside — Lipidosis Syndromes, Cerebroside — Syndrome, Cerebroside Lipidosis — Syndromes, Cerebroside Lipidosis — Glucocerebrosidase Deficiency Disease — Deficiency Disease, Glucocerebrosidase — Deficiency Diseases, Glucocerebrosidase — Disease, Glucocerebrosidase Deficiency — Diseases, Glucocerebrosidase Deficiency — Glucocerebrosidase Deficiency Diseases — Glucosylceramide Beta-Glucosidase Deficiency Disease — Acid beta-Glucosidase Deficiency Disease — Acid beta-Glucosidase Deficiency — Gaucher Splenomegaly — Splenomegaly, Gaucher — Gaucher Syndrome — Syndrome, Gaucher — Gaucher Disease, Type 3 — Neuronopathic Gaucher Disease — Gaucher Disease, Juvenile — Disease, Juvenile Gaucher — Juvenile Gaucher Disease — Gaucher Disease, Neuronopathic — Disease, Neuronopathic Gaucher — Gaucher Disease, Subacute Neuronopathic Form — Gaucher Disease, Subacute Neuronopathic Type — Gaucher Disease, Type III — Type 3 Gaucher Disease — Gaucher Disease Type 3 — Gaucher Disease, Chronic Neuronopathic Type — Gaucher Disease, Juvenile and Adult, Cerebral — Subacute Neuronopathic Gaucher Disease — Gaucher Disease, Type 1 — Gaucher Disease, Chronic — Gaucher Disease, Non-Neuronopathic Form — Gaucher Disease, Non Neuronopathic Form — GBA Deficiency — Deficiencies, GBA — Deficiency, GBA — GBA Deficiencies — Type 1 Gaucher Disease — Gaucher Disease Type 1 — Gaucher Disease, Noncerebral Juvenile — Gaucher Disease, Type I — Chronic Gaucher Disease — Disease, Chronic Gaucher — Non-Neuronopathic Gaucher Disease — Disease, Non-Neuronopathic Gaucher — Gaucher Disease, Non-Neuronopathic — Non Neuronopathic Gaucher Disease — Gaucher Disease, Type 2 — Acute Neuronopathic Gaucher Disease — Gaucher Disease, Acute Neuronopathic — Gaucher Disease, Infantile — Disease, Infantile Gaucher — Gaucher Disease, Acute Neuronopathic Type — Gaucher Disease, Type II — Type 2 Gaucher Disease — Gaucher Disease Type 2 — Gaucher Disease, Infantile Cerebral — Infantile Gaucher Disease