2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: Case report

2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: Case report

We describe a patient with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD), which is a rare metabolic disorder resulted from an inborn error of isoleucine metabolism. A 7-month-old male infant with previously normal developmental milestones started with symptoms of fever, torpor and pe...

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Bibliographic Details
Main Authors: Camila Cristiane Silva Camelo, Sabrina Stephanie Lana Diniz, Karina Soares Loutfi, Andre Vinicius Soares Barbosa, Raquel Machado Tofani, Clara Gontijo Camelo, Ana Carolina Cardoso Diniz
Format: Article
Language:English
Published: Bulgarian Association of Young Surgeons 2019-03-01
Series:International Journal of Medical Reviews and Case Reports
Subjects:
inborn error
isoleucine
X-linked
organic aciduria
Online Access:http://www.ejmanager.com/fulltextpdf.php?mno=30815

Internet

http://www.ejmanager.com/fulltextpdf.php?mno=30815

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