Reversing Acute Cardiomyopathy With Coenzyme <scp>Q10</scp> Supplementation in Cobalamin B Disease: A Case Report and Literature Review

Methylmalonic acidemia (MMA) is a rare metabolic disorder with various subtypes, including Cobalamin B (cblB) disease. While cardiac complications are well-documented in propionic acidemia, their occurrence in MMA is less understood. Here, we report a 12-year-old child with cblB disorder who developed acute cardiomyopathy (CM). The patient presented with fever, tachycardia, and dyspnea. Echocardiography revealed depressed left ventricular function, which initially improved with standard treatment but rapidly deteriorated. Coenzyme Q10 (CoQ10) supplementation was initiated at a dose of 25 mg/kg/day, resulting in a remarkable improvement in cardiac function within 72 h. This report highlights the potential efficacy of CoQ10 in treating MMA-related cardiomyopathy, suggesting mitochondrial dysfunction as a key factor. The successful use of CoQ10 in this context is novel, as previous literature mainly focused on its application in propionic acidemia. This report proposes CoQ10 supplementation as a promising adjuvant therapy for cardiomyopathy in MMA, particularly in cblB disorder, and calls for further research to validate its benefits.

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Publication Details

Journal
JIMD Reports
Published
2025-12-25
DOI
https://doi.org/10.1002/jmd2.70063
Primary Topic
Folate and B Vitamins Research
Type
article
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0.00
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article

Reversing Acute Cardiomyopathy With Coenzyme Q10 Supplementation in Cobalamin B Disease: A Case Report and Literature Review

Dalia Galal Said, Ali Shamsi
JIMD Reports
Folate and B Vitamins Research
article

Reversing Acute Cardiomyopathy With Coenzyme Q10 Supplementation in Cobalamin B Disease: A Case Report and Literature Review

Dalia Galal Said, Ali Shamsi
article en

Abstract

Methylmalonic acidemia (MMA) is a rare metabolic disorder with various subtypes, including Cobalamin B (cblB) disease. While cardiac complications are well-documented in propionic acidemia, their occurrence in MMA is less understood. Here, we report a 12-year-old child with cblB disorder who developed acute cardiomyopathy (CM). The patient presented with fever, tachycardia, and dyspnea. Echocardiography revealed depressed left ventricular function, which initially improved with standard treatment but rapidly deteriorated. Coenzyme Q10 (CoQ10) supplementation was initiated at a dose of 25 mg/kg/day, resulting in a remarkable improvement in cardiac function within 72 h. This report highlights the potential efficacy of CoQ10 in treating MMA-related cardiomyopathy, suggesting mitochondrial dysfunction as a key factor. The successful use of CoQ10 in this context is novel, as previous literature mainly focused on its application in propionic acidemia. This report proposes CoQ10 supplementation as a promising adjuvant therapy for cardiomyopathy in MMA, particularly in cblB disorder, and calls for further research to validate its benefits.

JIMD ReportsVol. 67(1)
Tawam Hospital (AE)
Good health and well-being
Openalex Percentile: Top 28%
Folate and B Vitamins Research
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