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Article

A Korean child diagnosed with malonic aciduria harboring a novel start codon mutation following presentation with dilated cardiomyopathy.

Molecular genetics & genomic medicine - 1 Sept 2020

Lee Seung Hoon, Ko Jung Min, Song Mi-Kyoung, Song Junghan, Park Kyung Sun

Abstract excerpt

BACKGROUND: Malonic aciduria (MA, OMIM#248360) is an extremely rare inherited metabolic disorder caused by the deficiency of malonyl-CoA decarboxylase. The phenotype exhibited by patients with MA is variable, but may include symptoms, such as developmental delay in early childhood, seizures, vomiting, metabolic acidosis, hypoglycemia, ketosis, and cardiomyopathy. We describe the first case of a Korean child with...

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Identifiers

PMID: 32602666
DOI: 10.1002/mgg3.1379
PMCID: PMC7507300

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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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