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A fatal case of neonatal onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutation of ETFDH gene: case report.

Italian journal of pediatrics - 5 Sept 2022

De Pasquale Loredana, Meo Petronilla, Fulia Francesco, Anania Antonio, Meli Valerio, Mondello Antonina, Raimondo Maria Tindara, Tulino Viviana, Coletta Maria Sole, Cacace Caterina

Abstract excerpt

BACKGROUND: Multiple acyl-CoA dehydrogenase deficiency (MADD) or glutaric aciduria type II is an extremely rare autosomal recessive inborn error of fatty acid beta oxidation and branched-chain amino acids, secondary to mutations in the genes encoding the electron transfer flavoproteins A and B (ETFs; ETFA or ETFB) or ETF dehydrogenase (ETFDH). The clinical manifestation of MADD are heterogeneous, from severe...

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Electron-Transferring Flavoproteins
Infant, Newborn
Iron-Sulfur Proteins
Multiple Acyl Coenzyme A Dehydrogenase Deficiency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Oxidoreductases Acting on CH-NH Group Donors

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PMID: 36064718
DOI: 10.1186/s13052-022-01356-w
PMCID: PMC9446717

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A fatal case of neonatal onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutation of ETFDH gene: case report.PMID 36064718Read ↗

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