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...

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Detalles Bibliográficos
Autores principales: Jagadish, Ashwin, Sclater, Kaitlin, Lapinski, Taylor, Adkins, Karen, Selzer, Lauren
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Pediatrics
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

Internet

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

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