Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduria.

Molecular genetics and metabolism - 1 Jan 2012

Xue Jinjie, Peng Jing, Zhou Mingxing, Zhong Le, Yin Fei, Liang Desheng, Wu Lingqian

Abstract excerpt

A 3-year-old Chinese boy presented with prominent clinical features of malonic aciduria, including developmental delay, short stature, brain abnormalities and massive excretion of malonic acid and methylmalonic acid. Molecular characterization by DNA sequencing analysis and multiplex ligation-dependent probe amplification of the MLYCD gene revealed a heterozygous mutation (c.920T>G, p.Leu307Arg) in the patient...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Asian People
Share to Carboxy-Lyases
Share to China

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Infant, Newborn

Share to Metabolic Networks and Pathways

Share to Metabolism, Inborn Errors

Share to Methylmalonic Acid

Source

Identifiers

PMID: 22104738
DOI: 10.1016/j.ymgme.2011.09.007

Genes

MLYCD

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduria.PMID 22104738Read ↗

Clinical, biochemical and genetic characteristics and long-term follow-up of five patients with malonyl-CoA decarboxylase deficiency.Semantic proximity Read ↗

Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening.Semantic proximity Read ↗

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

Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study.Semantic proximity Read ↗

Phenotypic and genotypic analysis of children with methylmalonic academia: A single-center study in China and a recent literature review.Semantic proximity Read ↗

Clinical and Molecular Genetic Analysis with Methylmalonic Acidemia Combined with Homocystinuria.Semantic proximity Read ↗

The genotype analysis and prenatal genetic diagnosis among 244 pedigrees with methylmalonic aciduria in China.Semantic proximity Read ↗

Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.Semantic proximity Read ↗

[Differential diagnosis of a Chinese pedigree with methylmalonic acidemia by next-generation sequencing].Semantic proximity Read ↗

Identification of eight novel mutations in 11 Chinese patients with maple syrup urine disease.Semantic proximity Read ↗

Methylmalonic acidemia: Current status and research prioritiesSemantic proximity Read ↗

Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuriaSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.