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

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

3-methylcrotonyl-CoA carboxylase deficiency (3MCCD) is a hereditary disorder of leucine catabolism caused by pathogenetic variants in the MCCC1 or MCCC2 genes. Typically diagnosed through newborn screening (NBS), 3MCCD is characterized by elevation of 3-hydroxyisovalerylcarnitine (C5OH) in blood as...

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Bibliographic Details
Main Authors: Rosamaria Terracciano, Margherita Ruoppolo, Ferdinando Barretta, Lucia Albano, Daniela Crisci, Giovanna Gallo, Fabiana Uomo, Pietro Strisciuglio, Giancarlo Parenti, Giulia Frisso, Alessandro Rossi
Format: Article
Language:English
Published: Elsevier 2024-09-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Amino acid
3-methylcrotonylglycinuria
Management
Carnitine
Phenotypic heterogeneity
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426924000697

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http://www.sciencedirect.com/science/article/pii/S2214426924000697

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