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levergebonden glycogeensynthasedeficiëntie (aandoening)
levergebonden glycogeensynthasedeficiëntie
hepatische glycogeensynthasedeficiëntie
levergebonden deficiëntie van glycogeensynthase
levergebonden glycogeensynthetasedeficiëntie
Hepatic glycogen synthase deficiency
Glycogen storage disease type 0a
Glycogenosis type 0a
Glycogen storage disease due to liver glycogen synthase deficiency
Glycogen storage disease due to hepatic glycogen synthase deficiency
A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease characterized by fasting hypoglycemia. It is an extremely rare disease; about 20 cases have been reported in the literature so far. The disease appears in infancy or in early childhood. Patients present with morning fatigue and fasting hypoglycemia (without hepatomegaly) associated with hyperketonemia but without hyperalaninemia or hyperlactacidemia. After meals, major hyperglycemia associated with lactate and alanine increase and hyperlipidemia is observed. Caused by mutations in the GYS2 gene (12p12.2). Transmission is autosomal recessive.
Id725026008
StatusPrimitive
Finding sitestructuur van lever
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetE74.0
RuleTRUE
AdviceALWAYS E74.0
CorrelationSNOMED CT source code to target map code correlation not specified