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Article

Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Dec 2011

Sakamoto Osamu, Ohura Toshihiro, Murayama Kei, Ohtake Akira, Harashima Hiroko, Abukawa Daiki, Takeyama Junji, Haginoya Kazuhiro, Miyabayashi Shigeaki, Kure Shigeo

Abstract excerpt

BACKGROUND: Succinyl-coenzyme A ligase (SUCL) is a mitochondrial enzyme that catalyses the reversible conversion of succinyl-coenzyme A to succinate. SUCL consists of an α subunit, encoded by SUCLG1, and a β subunit, encoded by either SUCLA2 or SUCLG2. Recently, mutations in SUCLG1 or SUCLA2 have been identified in patients with infantile lactic acidosis showing elevated urinary excretion of methylmalonate,...

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Topics

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Share to Acidosis, Lactic
Share to Acyl Coenzyme A

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Amino Acid Metabolism, Inborn Errors

Share to Blotting, Western

Share to DNA Mutational Analysis

Share to Fatal Outcome

Share to Infant, Newborn

Source

Identifiers

PMID: 21639866
DOI: 10.1111/j.1442-200X.2011.03412.x

Genes

SUCLG1
SUCLA2
SUCLG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene.PMID 21639866Read ↗

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