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Article

Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.

Pediatric research - 1 Aug 2010

Van Hove Johan L K, Saenz Margarita S, Thomas Janet A, Gallagher Renata C, Lovell Mark A, Fenton Laura Z, Shanske Sarah, Myers Sommer M, Wanders Ronald J A, Ruiter Jos, Turkenburg Marjolein, Waterham Hans R

Abstract excerpt

This patient presented on the first day of life with pronounced lactic acidosis with an elevated lactate/pyruvate ratio. Urine organic acids showed Krebs cycle metabolites and mildly elevated methylmalonate and methylcitrate. The acylcarnitine profile showed elevated propionylcarnitine and succinylcarnitine. Amino acids showed elevated glutamic acid, glutamine, proline, and alanine. From the age 2 of mo on, she...

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Source

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Identifiers

PMID: 20453710
DOI: 10.1203/PDR.0b013e3181e5c3a4
PMCID: PMC2928220

Genes

SUCLG1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.PMID 20453710Read ↗

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