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Article

Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.

Molecular genetics and metabolism - 1 Jan 2000

Tort Frederic, García-Silva María Teresa, Ferrer-Cortès Xènia, Navarro-Sastre Aleix, Garcia-Villoria Judith, Coll Maria Josep, Vidal Enrique, Jiménez-Almazán Jorge, Dopazo Joaquín, Briones Paz, Elpeleg Orly, Ribes Antonia

Abstract excerpt

3-Methylglutaconic aciduria (3-MGA-uria) is a heterogeneous group of syndromes characterized by an increased excretion of 3-methylglutaconic and 3-methylglutaric acids. Five types of 3-MGA-uria (I to V) with different clinical presentations have been described. Causative mutations in TAZ, OPA3, DNAJC19, ATP12, ATP5E, and TMEM70 have been identified. After excluding the known genetic causes of 3-MGA-uria we used...

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Source

Identifiers

PMID: 23707711
DOI: 10.1016/j.ymgme.2013.04.021

Genes

SERAC1
MGA
DNAJC19
OPA3
TMEM70

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.PMID 23707711Read ↗

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