Cardioencephalopathy with hyperammonaemia (Q101729): Difference between revisions
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A encefalomiopatia mitocondrial devido à mutação TMEM70 é uma doença de fosforilação oxidativa caracterizada por início precoce de hipotonia neonatal, cardiomiopatia hipertrófica e crises de apneia horas após o nascimento acompanhadas por acidose láctica, hiperamonemia e acidúria 3-metilglutacônica. | |||
| description / en | description / en | ||
Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is an oxidative phosphorylation disease characterised by early neonatal onset of hypotonia, hypertrophic cardiomyopathy and apnoeic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria. | |||
Revision as of 18:34, 16 August 2026
Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is an oxidative phosphorylation disease characterised by early neonatal onset of hypotonia, hypertrophic cardiomyopathy and apnoeic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_787034237 |
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| English | Cardioencephalopathy with hyperammonaemia |
Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is an oxidative phosphorylation disease characterised by early neonatal onset of hypotonia, hypertrophic cardiomyopathy and apnoeic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria. |
