| Descripteur français | Glycogénose de type II |
| Descripteur américain | Glycogen Storage Disease Type II |
| Terme(s) français | Glycogénose de type II / Glycogénose de type II juvénile / Glycogénose de type 2 juvénile / Glycogénose de type II infantile / Glycogénose de type 2 infantile / Glycogénose de type II de l'adulte / Glycogénose de type 2 de l'adulte / |
| Terme(s) américain(s) | Glycogen Storage Disease Type II / 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 / |
| Scope Note | 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) |
| Code(s) d'arborescence | C10.228.140.163.100.435.340 / C16.320.565.189.435.340 / C16.320.565.202.449.500 / C16.320.565.595.554.340 / C18.452.132.100.435.340 / C18.452.648.189.435.340 / C18.452.648.202.449.500 / C18.452.648.595.554.340 / |
| Qualificatifs autorisés français | diagnostic / parasitologie / immunologie / microbiologie / imagerie diagnostique / physiopathologie / rééducation et réadaptation / enzymologie / étiologie / mortalité / épidémiologie / sang / liquide cérébrospinal / induit chimiquement / diétothérapie / traitement médicamenteux / thérapie / psychologie / urine / virologie / médecine vétérinaire / histoire / classification / économie / embryologie / génétique / soins infirmiers / radiothérapie / ethnologie / prévention et contrôle / anatomopathologie / métabolisme / complications / chirurgie / |
| Qualificatifs autorisés américains | diagnosis / parasitology / immunology / microbiology / diagnostic imaging / physiopathology / rehabilitation / enzymology / etiology / mortality / epidemiology / blood / cerebrospinal fluid / chemically induced / diet therapy / drug therapy / therapy / psychology / urine / virology / veterinary / history / classification / economics / embryology / genetics / nursing / radiotherapy / ethnology / prevention & control / pathology / metabolism / complications / surgery / |
| Qualificatifs autorisés abrégés | DI / PS / IM / MI / DG / PP / RH / EN / ET / MO / EP / BL / CF / CI / DH / DT / TH / PX / UR / VI / VE / HI / CL / EC / EM / GE / NU / RT / EH / PC / PA / ME / CO / SU / |
| Indexation antérieure | Glucosidases/metabolism (1966-1974) / Glycogenosis (1966-1974) / Heart Diseases (1966-1974) / |
| Identifiant | D006009 |
| Date d'ajout et note historique | 1989(1975); use GLYCOGENOSIS 1975-1988 |
| Voir aussi le(s) descripteur(s) français | |
| Voir aussi le(s) descripteur(s) américain(s) | Glucan 1,4-alpha-Glucosidase / |