Glycogen Storage Disease Type II

Glykogenupplagringssjukdom typ II

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 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