Article

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

2022-04-21

Abstract excerpt

<h4>Background: </h4> 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 is heterogeneous, from sev...

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Literature Corpus work: 320fa60e-4106-5269-8518-b2ca3d99d7da
DOI: 10.21203/rs.3.rs-1497075/v1

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