Evidence map›Paper›PMID 29980873›Full record

ReviewNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2018

A novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review.

Yuanfeng Zhang, Chunmei Wang, Kunfang Yang, Simei Wang, Guoli Tian, Yucai Chen

Abstract readCase ReportsReview
PubMed Publisher
In one paragraph

Review in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.6field-weighted citation impact, top 33% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Frontiers in genetics · 2020
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 1 institution in 1 country.

Yuanfeng ZhangDepartment of Neurology, Shanghai Children's Hospital, Shanghai Jiao Tong University, 355 Lu Ding Lu, Putuo Qu, Shanghai, 200062, China.
Chunmei WangDepartment of Neurology, Shanghai Children's Hospital, Shanghai Jiao Tong University, 355 Lu Ding Lu, Putuo Qu, Shanghai, 200062, China.
Kunfang YangDepartment of Neurology, Shanghai Children's Hospital, Shanghai Jiao Tong University, 355 Lu Ding Lu, Putuo Qu, Shanghai, 200062, China.
Simei WangDepartment of Neurology, Shanghai Children's Hospital, Shanghai Jiao Tong University, 355 Lu Ding Lu, Putuo Qu, Shanghai, 200062, China.
Guoli TianNeonatal Screening Center, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shi, Shanghai, 200000, China.
Yucai ChenDepartment of Neurology, Shanghai Children's Hospital, Shanghai Jiao Tong University, 355 Lu Ding Lu, Putuo Qu, Shanghai, 200062, China. chenyucaiphd@hotmail.com.ORCID http://orcid.org/0000-0002-0626-0001
Shanghai Jiao Tong University · CN

Funding

he Shanghai Science and Technology Fund 16410723400the National Natural Science Foundation of China 81650008
6 · The paper itself

Abstract

objectiveL-2-hydroxyglutaric aciduria is a genetic metabolic disorder. Its clinical features include elevated levels of hydroxyglutaric acid in body fluids and abnormal magnetic resonance imaging (MRI) in the subcortical white matter, which are affected by the accumulation of L-2-hydroxyglutaric acid.

methodA boy with psychomotor retardation and progressive ataxia accompanied by abnormal brain MRI findings was tested using whole-exome sequencing.

resultsNext-generation sequencing (NGS) revealed two novel compound heterozygous frameshift mutations, c.407 del A (p.K136SfsTer3) and c.699_c700 ins A (p.D234RfsTer42), in the L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene, leading to premature termination codons and truncated FAD/NAD(P)-binding domain of L2HGDH protein. Further laboratory testing revealed an increase in the 2-hydroxyglutaric acid level in the urine.

conclusionThe results suggested that NGS could provide clues for identifying patients with abnormal neuroradiological findings in the subcortical white matter.

Indexed as

Alcohol OxidoreductasesAsian PeopleBrainBrain Diseases, Metabolic, InbornChild, PreschoolDNA Mutational AnalysisGlutaratesHumansMagnetic Resonance ImagingMaleMutationAlcohol Oxidoreductasesalpha-hydroxyglutarateGlutaratesL2HGDH protein, humanL2HGDH geneL-2-hydroxyglutaric aciduriaMutationWhole-exome sequencing

Identifiers

PMID29980873
OpenAlexW2838964022

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.