3-methylcrotonylglycinuria (Q86116): Difference between revisions
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A deficiência isolada de 3-metilcrotonil-CoA carboxilase é uma acidúria orgânica devido a um distúrbio do catabolismo da leucina. O fenótipo é variável, desde início neonatal com grave envolvimento neurológico até adultos assintomáticos. A maioria dos pacientes sintomáticos tem crescimento e desenvolvimento normais até apresentar uma crise metabólica aguda entre 2 e 33 meses de idade que se manifesta como vômitos, opistótono, movimentos involuntários, convulsões, coma e apneia, e que muitas vezes são acompanhados por hipoglicemia grave, cetoacidose e hiperamonemia leve . | |||
| description / en | description / en | ||
Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an organic aciduria due to a disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. Most symptomatic patients have normal growth and development until presenting with an acute metabolic crisis between 2 and 33 months of age manifesting as vomiting, opisthotonus, involuntary movements, seizures, coma and apnoea, and that are often accompanied by severe hypoglycaemia, ketoacidosis and mild hyperammonemia. | |||
Revision as of 11:28, 15 August 2026
Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an organic aciduria due to a disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. Most symptomatic patients have normal growth and development until presenting with an acute metabolic crisis between 2 and 33 months of age manifesting as vomiting, opisthotonus, involuntary movements, seizures, coma and apnoea, and that are often accompanied by severe hypoglycaemia, ketoacidosis and mild hyperammonemia.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_769681951 |
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| English | 3-methylcrotonylglycinuria |
Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an organic aciduria due to a disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. Most symptomatic patients have normal growth and development until presenting with an acute metabolic crisis between 2 and 33 months of age manifesting as vomiting, opisthotonus, involuntary movements, seizures, coma and apnoea, and that are often accompanied by severe hypoglycaemia, ketoacidosis and mild hyperammonemia. |
