Glycogen storage disease due to muscle or heart glycogen synthase deficiency (Q100824): Difference between revisions
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Esta síndrome é caracterizada por deficiência de glicogênio no músculo e coração. Foi descrita em três irmãos (dois irmãos e sua irmã mais nova). O irmão mais velho morreu aos 10,5 anos de idade devido a morte súbita cardíaca e o irmão mais novo apresentou cardiomiopatia hipertrófica, frequência cardíaca e pressão arterial anormais durante o exercício e fadigabilidade muscular. A irmã não apresentou sintomas, mas a falta de glicogênio foi identificada por meio de biópsia muscular.A síndrome é causada por mutações homozigóticas de sentido incorreto no gene que codifica a glicogênio sintase muscular. | |||
| description / en | description / en | ||
This syndrome is characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase. | |||
Revision as of 17:35, 16 August 2026
This syndrome is characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1108770803 |
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| English | Glycogen storage disease due to muscle or heart glycogen synthase deficiency |
This syndrome is characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase. |
