What question did this study set out to answer?

To evaluate the effects of ketone supplementation on an infant diagnosed with Multiple Acyl-CoA Dehydrogenase Deficiency (MADD).

April 29, 2026American Journal of Medical Genetics Part AOpen Access

Response of an Infant With Presumed Multiple Acyl‐ CoA Dehydrogenase Deficiency ( MADD ) to Ketone Supplementation

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Authors

YFYutaka FurutaVanderbilt University Medical Center KBKaitlyn N. BloomUniversity of Pittsburgh JVJerry VockleyUniversity of Pittsburgh

Discussion

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Implication

Case report shows favorable cardiac and biochemical responses to ketone supplementation in infant with inborn metabolic error, suggesting metabolic therapy may be beneficial even without a molecularly

Key Points

To evaluate the effects of ketone supplementation on an infant diagnosed with Multiple Acyl-CoA Dehydrogenase Deficiency (MADD).
Case report of an infant with clinical and biochemical MADD.
Ketone supplementation provided for treatment over a period of 3.5 years.
Assessment included clinical observation, cardiac function evaluation, and biochemical profiling.
Marked improvement in severe cardiac dysfunction was observed.
Sustained near-normal cardiac function and biochemical profiles over 3.5 years were reported.
ETFB expression was found to be likely responsible for the clinical presentation despite lack of identified variants.

Cite This Study

Furuta et al. (2026) studied this question.

synapsesocial.com/papers/69f154c0879cb923c4944f13 https://doi.org/10.1002/ajmg.a.70177

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Response of an Infant With Presumed Multiple Acyl‐ CoA Dehydrogenase Deficiency ( MADD ) to Ketone Supplementation

Discussion

Member takes

Implication

Key Points

Cite This Study

Response of an Infant With Presumed Multiple Acyl‐ CoA Dehydrogenase Deficiency ( MADD ) to Ketone Supplementation

Discussion

Member takes

Implication

Key Points

Cite This Study

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