Glycogen storage disease due to glucose-6-phosphate transport defect (Q100839): Difference between revisions
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A glicogenose por deficiência de glicose-6-fosfatase (G6P) tipo a, ou doença do armazenamento de glicogênio (GSD) tipo 1a, é um tipo de glicogenose por deficiência de G6P que pode se manifestar ao nascimento por hepatomegalia ou mais comumente, entre a idade de três a quatro meses, por sintomas de hipoglicemia induzida por jejum (tremores, convulsões, cianose e apneia), devido ao distúrbio da homeostase da glicose. | |||
| description / en | description / en | ||
Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency that may manifest at birth by enlarged liver or, more commonly, between the ages of three to four months by symptoms of fast-induced hypoglycaemia (tremors, seizures, cyanosis, and apnoea) as a result of disturbed glucose homeostasis . | |||
Revision as of 17:36, 16 August 2026
Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency that may manifest at birth by enlarged liver or, more commonly, between the ages of three to four months by symptoms of fast-induced hypoglycaemia (tremors, seizures, cyanosis, and apnoea) as a result of disturbed glucose homeostasis .
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1944306590 |
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| English | Glycogen storage disease due to glucose-6-phosphate transport defect |
Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency that may manifest at birth by enlarged liver or, more commonly, between the ages of three to four months by symptoms of fast-induced hypoglycaemia (tremors, seizures, cyanosis, and apnoea) as a result of disturbed glucose homeostasis . |
