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July 4, 2024Molecular Genetics and Metabolism ReportsOpen Access

An asymptomatic father diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency following his son newborn screening test

Rosamaria Terracciano Margherita Ruoppolo Ferdinando Barretta Lucia Albano Daniela Crisci Giovanna Gallo Fabiana Uomo Pietro Strisciuglio Giancarlo Parenti Giulia Frisso Alessandro Rossi

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Abstract

3-methylcrotonyl-CoA carboxylase deficiency (3MCCD) is a hereditary disorder of leucine catabolism caused by pathogenetic variants in the

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Terracciano et al. (2024) studied this question.

synapsesocial.com/papers/68e616beb6db6435875a9158 https://doi.org/10.1016/j.ymgmr.2024.101116

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Newborn screening and genetic diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency in Quanzhou,China2024 · 2 citations
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4Surgical Repair of Atrial Septal Defect in a Patient with 3-Methylcrotonyl-CoA Carboxylase Deficiencycase_report · 2024
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