Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency.

doi:10.3390/ijms25179637

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Article

Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency.

International journal of molecular sciences - 5 Sept 2024

Martino Stefania, D'Addabbo Pietro, Turchiano Antonella, Radio Francesca Clementina, Bruselles Alessandro, Cordeddu Viviana, Mancini Cecilia, Stella Alessandro, Laforgia Nicola, Capodiferro Donatella, Simonetti Simonetta, Bagnulo Rosanna, Palumbo Orazio, Marzano Flaviana, Tabaku Ornella, Garganese Antonella, Stasi Michele, Tartaglia Marco, Pesole Graziano, Resta Nicoletta

Abstract excerpt

Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inborn error of metabolism affecting fatty acid and amino acid oxidation with an incidence of 1 in 200,000 live births. MADD has three clinical phenotypes: severe neonatal-onset with or without congenital anomalies, and a milder late-onset form. Clinical diagnosis is supported by urinary organic acid and blood acylcarnitine analysis using tandem mass...

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PMID: 39273584
DOI: 10.3390/ijms25179637
PMCID: PMC11395610

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