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

3-methylcrotonylglycinuria Amino acid Carnitine Management Phenotypic heterogeneity

Journal

Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422

Informations de publication

Date de publication:
Sep 2024
Historique:
received: 27 05 2024
revised: 27 06 2024
accepted: 28 06 2024
medline: 26 7 2024
pubmed: 26 7 2024
entrez: 26 7 2024
Statut: epublish

Résumé

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

Identifiants

DOI: 10.1016/j.ymgmr.2024.101116 PMID: 39055105 PMC: PMC11269298
pubmed: 39055105
doi: 10.1016/j.ymgmr.2024.101116
pii: S2214-4269(24)00069-7
pmc: PMC11269298
doi:

Types de publication

Journal Article

Langues

eng

Pagination

101116

Informations de copyright

© 2024 The Authors. Published by Elsevier Inc.

Déclaration de conflit d'intérêts

The authors declare that there is no potential conflict of interest related to this work.

Auteurs

Rosamaria Terracciano (R)

Department of Translational Medicine, Section of Pediatrics, University of Naples "Federico II", Naples, Italy.

Margherita Ruoppolo (M)

Department of Molecular Medicine and Medical Biotechnology, University of Naples "Federico II", Naples, Italy.
CEINGE Biotecnologie Avanzate s.c.ar.l, Naples, Italy.

Ferdinando Barretta (F)

CEINGE Biotecnologie Avanzate s.c.ar.l, Naples, Italy.
DAI Laboratory Medicine, AOU Federico II, Naples, Italy.

Lucia Albano (L)

CEINGE Biotecnologie Avanzate s.c.ar.l, Naples, Italy.

Daniela Crisci (D)

CEINGE Biotecnologie Avanzate s.c.ar.l, Naples, Italy.

Giovanna Gallo (G)

CEINGE Biotecnologie Avanzate s.c.ar.l, Naples, Italy.

Fabiana Uomo (F)

Department of Molecular Medicine and Medical Biotechnology, University of Naples "Federico II", Naples, Italy.
CEINGE Biotecnologie Avanzate s.c.ar.l, Naples, Italy.

Pietro Strisciuglio (P)

Department of Translational Medicine, Section of Pediatrics, University of Naples "Federico II", Naples, Italy.

Giancarlo Parenti (G)

Department of Translational Medicine, Section of Pediatrics, University of Naples "Federico II", Naples, Italy.
Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.

Giulia Frisso (G)

Department of Molecular Medicine and Medical Biotechnology, University of Naples "Federico II", Naples, Italy.
CEINGE Biotecnologie Avanzate s.c.ar.l, Naples, Italy.

Alessandro Rossi (A)

Department of Translational Medicine, Section of Pediatrics, University of Naples "Federico II", Naples, Italy.

Classifications MeSH