Response of an Infant With Presumed Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation.
Yutaka Furuta, Kaitlyn N Bloom, Jerry Vockley et al.
✦ AI-curated · Sources linked
Case in brief
An infant diagnosed with Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) exhibited severe cardiac dysfunction. Despite genome sequencing failing to identify pathogenic variants, RNA sequencing indicated reduced ETFB transcript levels. The infant responded positively to ketone supplementation, leading to significant improvement in cardiac function and biochemical profiles over 3.5 years, suggesting a potential therapeutic approach in MADD cases without a confirmed molecular diagnosis.
Diagnostic / clinical pearl
Clinicians should consider initiating metabolic therapy in patients with clinically suspected MADD, even when molecular diagnosis is not established, as it may lead to significant clinical improvements.
Why it matters
This case highlights the importance of exploring transcriptional regulation of ETFB in MADD, which may reveal new insights into its molecular mechanisms and guide future research.