Glycogen storage disease due to liver glycogen synthase deficiency (Q100829): Difference between revisions
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Deficiência de glicogênio sintetase hepática ou doença de depósito de glicogênio tipo 0 é uma anomalia do metabolismo de glicogênio, herdada geneticamente, caracterizada por hipoglicemia de jejum. Não se trata de uma glicogenose rigorosamente falando, pois a deficiência enzimática diminui as reservas de glicogênio. Pacientes se apresentam com fadiga matutina e hipoglicemia de jejum (sem hepatomagalia) associada à cetonemia, mas sem hiperalaninemia ou hiperlactatemia. Após alimentação, observa-se grande hiperglicemia associada ao aumento de lactato, de alanina e hiperlipidemia. | |||
| description / en | description / en | ||
Hepatic glycogen synthase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterised by fasting hypoglycaemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves. Patients present with morning fatigue and fasting hypoglycaemia (without hepatomegaly) associated with hyperketonemia but without hyperalaninemia or hyperlactacidemia. After meals, major hyperglycemia associated with lactate and alanine increase and hyperlipidemia is observed. | |||
Revision as of 17:36, 16 August 2026
Hepatic glycogen synthase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterised by fasting hypoglycaemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves. Patients present with morning fatigue and fasting hypoglycaemia (without hepatomegaly) associated with hyperketonemia but without hyperalaninemia or hyperlactacidemia. After meals, major hyperglycemia associated with lactate and alanine increase and hyperlipidemia is observed.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1927530758 |
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| English | Glycogen storage disease due to liver glycogen synthase deficiency |
Hepatic glycogen synthase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterised by fasting hypoglycaemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves. Patients present with morning fatigue and fasting hypoglycaemia (without hepatomegaly) associated with hyperketonemia but without hyperalaninemia or hyperlactacidemia. After meals, major hyperglycemia associated with lactate and alanine increase and hyperlipidemia is observed. |
