Ketoacidosis due to beta-ketothiolase deficiency (Q86109): Difference between revisions
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A cetoacidose por deficiência de beta-cetotiolase é um distúrbio da cetólise caracterizado por desenvolvimento inicial normal seguido por uma perda progressiva das habilidades mentais e motoras, episódios cetoacidóticos intermitentes, sem sintomas clínicos entre os episódios. Os episódios cetoacidóticos são geralmente graves e às vezes acompanhados de letargia / coma. | |||
| description / en | description / en | ||
Ketoacidosis due to betaketothiolase deficiency is a ketolysis disorder characterised by normal early development followed by a progressive loss of mental and motor skills, intermittent ketoacidotic episodes, with no clinical symptoms between episodes. Ketoacidotic episodes are usually severe and sometimes accompanied by lethargy/coma. | |||
Revision as of 11:28, 15 August 2026
Ketoacidosis due to betaketothiolase deficiency is a ketolysis disorder characterised by normal early development followed by a progressive loss of mental and motor skills, intermittent ketoacidotic episodes, with no clinical symptoms between episodes. Ketoacidotic episodes are usually severe and sometimes accompanied by lethargy/coma.
| Language | Label | Description | Also known as |
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| default for all languages | ID_2139994596 |
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| English | Ketoacidosis due to beta-ketothiolase deficiency |
Ketoacidosis due to betaketothiolase deficiency is a ketolysis disorder characterised by normal early development followed by a progressive loss of mental and motor skills, intermittent ketoacidotic episodes, with no clinical symptoms between episodes. Ketoacidotic episodes are usually severe and sometimes accompanied by lethargy/coma. |
