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A Unique Presentation of 3-Methylcrotonyl-CoA Carboxylase Deficiency
3-methylcrotonyl-CoA carboxylase deficiency is an autosomal recessive disorder resulting in impaired leucine metabolism. The condition is typically diagnosed with newborn screening; patients diagnosed at a later stage generally present with symptoms including metabolic disturbances, seizures, failur...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cureus
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10287026/ https://www.ncbi.nlm.nih.gov/pubmed/37362523 http://dx.doi.org/10.7759/cureus.39401 |