E-ISSN 2534-9821
 
2023, Vol: 7, Issue: 11
7 / 11Current Issue Online FirstArchiveAims and ScopeAbstracting & IndexingMost Accessed ArticlesMost Downloaded ArticlesMost Cited Articles
Required files to be uploaded

Copyright Transfer Form

Case Report
Online Published: 07 Mar 2019
 


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

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.


Abstract
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 persistent metabolic acidosis during the course of a respiratory infection. The condition progressed to an acute deterioration and cardiac arrest. After cardiorespiratory resuscitation, he was admitted at the Intensive Care Unit. He presented with seizure, coma, metabolic acidosis and disturbs of hydroelectrolytic and glycemic imbalance. A head CT scan showed hypodensity in basal ganglia, thalamus, dentate nuclei and mesencephalon. The diagnosis was established through dosage of organics acids in the urine that showed increased excretion of 2-methyl-3-hydroxybutyric acid. Laboratory tests, neuroimage aspects, history of parents consanguinity, report of death of other probands and clinical evolution of the patient led to the suspicion of an inborn error of metabolism.

Key words: inborn error, isoleucine, X-linked, organic aciduria


 
ARTICLE TOOLS
Abstract
PDF Fulltext
How to cite this articleHow to cite this article
Citation Tools
Related Records
 Articles by Camila Cristiane Silva Camelo
Articles by Sabrina Stephanie Lana Diniz
Articles by Karina Soares Loutfi
Articles by Andre Vinicius Soares Barbosa
Articles by Raquel Machado Tofani
Articles by Clara Gontijo Camelo
Articles by Ana Carolina Cardoso Diniz
on Google
on Google Scholar


How to Cite this Article
Pubmed Style

Camelo CCS, SSLD, Loutfi KS, Barbosa AVS, Tofani RM, Camelo CG, Diniz ACC. 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: Case report. Int J Med Rev Case Rep. 2019; 3(3): 123-125. doi:10.5455/IJMRCR.2-methyl-3-hydroxybutyryl-CoA-dehydrogenase-deficiency

Web Style

Camelo CCS, SSLD, Loutfi KS, Barbosa AVS, Tofani RM, Camelo CG, Diniz ACC. 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: Case report. https://www.mdpub.net/?mno=30815 [Access: October 13, 2024]. doi:10.5455/IJMRCR.2-methyl-3-hydroxybutyryl-CoA-dehydrogenase-deficiency

AMA (American Medical Association) Style

Camelo CCS, SSLD, Loutfi KS, Barbosa AVS, Tofani RM, Camelo CG, Diniz ACC. 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: Case report. Int J Med Rev Case Rep. 2019; 3(3): 123-125. doi:10.5455/IJMRCR.2-methyl-3-hydroxybutyryl-CoA-dehydrogenase-deficiency


Vancouver/ICMJE Style

Camelo CCS, SSLD, Loutfi KS, Barbosa AVS, Tofani RM, Camelo CG, Diniz ACC. 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: Case report. Int J Med Rev Case Rep. (2019), [cited October 13, 2024]; 3(3): 123-125. doi:10.5455/IJMRCR.2-methyl-3-hydroxybutyryl-CoA-dehydrogenase-deficiency


Harvard Style

Camelo, C. C. S., , . S. S. L. D., Loutfi, . K. S., Barbosa, . A. V. S., Tofani, . R. M., Camelo, . C. G. & Diniz, . A. C. C. (2019) 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: Case report. Int J Med Rev Case Rep, 3 (3), 123-125. doi:10.5455/IJMRCR.2-methyl-3-hydroxybutyryl-CoA-dehydrogenase-deficiency


Turabian Style

Camelo, Camila Cristiane Silva, Sabrina Stephanie Lana Diniz, Karina Soares Loutfi, Andre Vinicius Soares Barbosa, Raquel Machado Tofani, Clara Gontijo Camelo, and Ana Carolina Cardoso Diniz. 2019. 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: Case report. International Journal of Medical Reviews and Case Reports, 3 (3), 123-125. doi:10.5455/IJMRCR.2-methyl-3-hydroxybutyryl-CoA-dehydrogenase-deficiency


Chicago Style

Camelo, Camila Cristiane Silva, Sabrina Stephanie Lana Diniz, Karina Soares Loutfi, Andre Vinicius Soares Barbosa, Raquel Machado Tofani, Clara Gontijo Camelo, and Ana Carolina Cardoso Diniz. "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: Case report." International Journal of Medical Reviews and Case Reports 3 (2019), 123-125. doi:10.5455/IJMRCR.2-methyl-3-hydroxybutyryl-CoA-dehydrogenase-deficiency


MLA (The Modern Language Association) Style

Camelo, Camila Cristiane Silva, Sabrina Stephanie Lana Diniz, Karina Soares Loutfi, Andre Vinicius Soares Barbosa, Raquel Machado Tofani, Clara Gontijo Camelo, and Ana Carolina Cardoso Diniz. "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: Case report." International Journal of Medical Reviews and Case Reports 3.3 (2019), 123-125. Print. doi:10.5455/IJMRCR.2-methyl-3-hydroxybutyryl-CoA-dehydrogenase-deficiency


APA (American Psychological Association) Style

Camelo, C. C. S., , . S. S. L. D., Loutfi, . K. S., Barbosa, . A. V. S., Tofani, . R. M., Camelo, . C. G. & Diniz, . A. C. C. (2019) 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: Case report. International Journal of Medical Reviews and Case Reports, 3 (3), 123-125. doi:10.5455/IJMRCR.2-methyl-3-hydroxybutyryl-CoA-dehydrogenase-deficiency


Author LoginReviewer LoginAbout PublisherEditorial PoliciesEditorial Review PolicyPeer Review PolicyEditorial & Peer Review ProcessAuthor's Rights and ObligationsPublication Ethics and Publication Malpractice StatementConflict of Interest PolicyPlagiarism PolicyProtection of Research Participants (Statement On Human And Animal Rights)Privacy PolicyCorrections, Retractions & Expressions of ConcernSelf-Archiving PoliciesDigital Archiving & Preservation PoliciesStatement of Informed ConsentAdvertising PolicyTerms of UseLicense InformationCopyright Information

About International Journal of Medical Reviews and Case Reports

International Journal of Medical Reviews and Case Reports  (Int J Med Rev Case Rep)ISSN: 2534-9821The International Journal of Medical Reviews and Ca ... Read more.



For best results, please use Internet Explorer or Google Chrome.

Contact Information


Any correspondence, queries or additional requests for information on the manuscript submission process should be sent to the International Journal of Medical Reviews and Case Reports editorial office as follows:

Bulgarian Association of Young Surgeons (BAYS);

National Center of Public Health and Analyses (NCPHA), floor 2, office № 31,  Sofia 1431, Bulgaria.

inkov@journalmedica.com

Financial department is managed by International Sci Ink Press. 

It is a company registered in Bulgaria with registered no. 205414288 and registered address at 57 Antim I str., Vazrazhdane, Sofia, 1303, Bulgaria.

Tel: +359883427500