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Literature summary for 6.4.1.4 extracted from
- 3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family (2009), J. Child Neurol., 24, 478-481.
Application
| Application | Comment | Organism |
|---|---|---|
| medicine | study of a family with 3-methylcrotonyl-CoA carboxylase deficiency with different clinical features. The three patients display elevated urinary 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, elevated 3-hydroxyisovalerylcarnitine and decreased free carnitine levels. Methylcrotonyl-CoA carboxylase activity in cultured fibroblasts displays a low residual activity of 2.2% of the median control value while propionyl-CoA carboxylase activity is normal in the index patient. Mutation analysis reveals a large homozygous deletion of 2264 bp, i.e. c.873þ4524_6787de12264 in the subunit MCCA gene | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
family with 3-methylcrotonyl-CoA carboxylase deficiency | - |
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Release 2023.1 (January 2023)
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