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Glykogenupplagringssjukdom typ IV
Hierarki: | ∟ ∟ ∟ ∟ ∟ ∟ Glykogenupplagringssjukdom typ IV 8 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Glykogenupplagringssjukdom typ IV 8 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ |
Bredare villkor: | |
Anmärkning: | Glucosyltransferases/metabolism (1966-1974) | Glycogenosis (1966-1974) | Liver Diseases (1966-1974)X |
Anmärkning: | An autosomal recessive metabolic disorder due to a deficiency in expression of GLYCOGEN BRANCHING ENZYME 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.
X |
Annotation: | do not confuse with ANDERSEN SYNDROME, a potassium-sensitive familial periodic paralysis
X |
historyNote*: | 91(89); was see under GLYCOGEN STORAGE DISEASE 1989-90; was GLYCOGENOSIS 4 see under GLYCOGENOSIS 1975-88
X |
onlineNote*: | use GLYCOGEN STORAGE DISEASE TYPE IV to search GLYCOGENOSIS 4 1975-88
X |
publicMeSHNote*: | 91; was see under GLYCOGEN STORAGE DISEASE 1989-90; was GLYCOGENOSIS 4 see under GLYCOGENOSIS 1975-88
X |
activeMeSHYear*: | 2007X |
dateCreated*: | 1974-12-12X |
dateEstablished*: | 1991-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | NLMX |
Typ: | |
Samordna villkor: | |
URI: | |
Termer och motsvarande begrepp: | Glykogenoosi IV (fi) XTyypin IV glykogenoosi (fi, ersatt) Tyypin IV dekstrinoosi (fi, ersatt) Glykogenoosi tyyppi IV (fi, ersatt) Tyyppi IV dekstrinoosi (fi, ersatt) Tyyppi IV glykogenoosi (fi, ersatt) Dekstrinoosi tyyppi IV (fi, ersatt) Dekstrinoosi IV (fi, ersatt) Andersenin tauti (fi, ersatt) Glykogenos 4 (sv, ersatt) Glycogen Storage Disease Type IV (en) Brancher Deficiency (en, ersatt) Andersen's Disease (en, ersatt) Andersen Disease (en, ersatt) Deficiency, Brancher (en, ersatt) Glycogenosis 4 (en, ersatt) Type IV Glycogenosis (en, ersatt) Amylopectinosis (en, ersatt) Morbus Andersen (la-FI, ersatt) |
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