Svensk definition
En autosomal, recessiv glykogenos orsakad av brist på glukan-1,4-alfaglukosidas. Stora mängder glykogen ansamlas i lysosomerna i skelettmuskelvävnad, hjärta, lever, ryggmärg och hjärna. Tre former har beskrivits: hos spädbarn, småbarn och vuxna. Spädbarnsformen är dödlig och visar sig med hypotoni och hjärtmuskelhypertrofi. Barndomsformen visar sig vanligtvis under andra levnadsåret som proximal svaghet och andningssymtom. Den form som uppträder i vuxen ålder yttrar sig som en långsamt tilltagande proximal muskelsjukdom.
Engelsk definition
An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)
Svenska synonymer
Glykogenos typ II — Pompes sjukdom — Surt maltasbrist — Glykogenos 2
Engelska synonymer
Acid Maltase Deficiency Disease — Deficiency Disease, Acid Maltase — Deficiency Disease, Lysosomal alpha-1,4-Glucosidase — GAA Deficiency — Deficiencies, GAA — Deficiency, GAA — GAA Deficiencies — Generalized Glycogenosis — Generalized Glycogenoses — Glycogenoses, Generalized — Glycogenosis, Generalized — Glycogen Storage Disease II — Glycogen Storage Disease Type 2 — Glycogenosis 2 — Glycogenosis Type II — Type II, Glycogenosis — Type IIs, Glycogenosis — GSD II — Lysosomal alpha-1,4-Glucosidase Deficiency Disease — Lysosomal alpha 1,4 Glucosidase Deficiency Disease — Pompe Disease — Disease, Pompe — Pompe's Disease — Disease, Pompe's — Pompes Disease — Deficiency of Alpha-Glucosidase — Alpha-Glucosidase Deficiencies — Alpha-Glucosidase Deficiency — Deficiency of Alpha Glucosidase — GSD2 — GSD2s — Acid Alpha-Glucosidase Deficiency — Acid Alpha Glucosidase Deficiency — Acid Alpha-Glucosidase Deficiencies — Alpha-Glucosidase Deficiencies, Acid — Alpha-Glucosidase Deficiency, Acid — Deficiencies, Acid Alpha-Glucosidase — Deficiency, Acid Alpha-Glucosidase — Glycogen Storage Disease Type II, Juvenile — Juvenile Glycogen Storage Disease Type II — Glycogen Storage Disease Type II, Infantile — Infantile Glycogen Storage Disease Type II — Acid Maltase Deficiency — Acid Maltase Deficiencies — Deficiencies, Acid Maltase — Deficiency, Acid Maltase — Maltase Deficiencies, Acid — Alpha-1,4-Glucosidase Deficiency — Alpha 1,4 Glucosidase Deficiency — Alpha-1,4-Glucosidase Deficiencies — Deficiencies, Alpha-1,4-Glucosidase — Deficiency, Alpha-1,4-Glucosidase — Adult Glycogen Storage Disease Type II — Glycogen Storage Disease Type II, Adult