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Case Report

Online Publishing Date:
07 / 03 / 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


 
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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: April 04, 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 April 04, 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


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