Evidence map›Paper›PMID 38837343›Full record

ArticleQJM : monthly journal of the Association of Physicians2024

Genotypic and phenotypic spectrum of maple syrup urine disease in Zhejiang of China.

X Yang, R Yang, T Zhang, D J Tan, R Pan, Z Chen, D Wu, C Chen, Y Xu, L Zhang and 3 more

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Article in QJM : monthly journal of the Association of Physicians, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
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

3 citing papers in PubMed.

  1. Article
  2. Review
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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

13 authors.

X YangDepartment of Genetics and Metabolism, Children's Hospital of Zhejiang University, School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
R YangDepartment of Genetics and Metabolism, Children's Hospital of Zhejiang University, School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
T ZhangDepartment of Genetics and Metabolism, Children's Hospital of Zhejiang University, School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
D J TanDepartment of Genetics and Metabolism, Children's Hospital of Zhejiang University, School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
R PanDepartment of Genetics and Metabolism, Children's Hospital of Zhejiang University, School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Z ChenDepartment of Genetics and Metabolism, Children's Hospital of Zhejiang University, School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
D WuDepartment of Genetics and Metabolism, Children's Hospital of Zhejiang University, School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
C ChenDepartment of Genetics and Metabolism, Children's Hospital of Zhejiang University, School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Y XuDepartment of Genetics and Metabolism, Children's Hospital of Zhejiang University, School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
L ZhangDepartment of Radiology, Children's Hospital of Zhejiang University, School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
X LiDepartment of Genetics and Metabolism, Children's Hospital of Zhejiang University, School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Q ShuDepartment of Genetics and Metabolism, Children's Hospital of Zhejiang University, School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
L HuDepartment of Genetics and Metabolism, Children's Hospital of Zhejiang University, School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.

Funding

Key R&D Program of Zhejiang 2024C03151National Natural Science Foundation of China 82000030National Program on Key Basic Research Project 2022YFC2703401Special Fund for the Incubation of Young Clinical ScientistThe Children's Hospital of Zhejiang University School of Medicine CHZJU2022YS005
6 · The paper itself

Abstract

backgroundMaple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder originating from defects in the branched-chain α-ketoacid dehydrogenase (BCKDH) complex encoded by BCKDHA, BCKDHB and DBT. This condition presents a spectrum of symptoms and potentially fatal outcomes. Although numerous mutations in the BCKDH complex genes associated with MSUD have been identified, the relationship between specific genotypes remains to be fully elucidated.

aimOur objective was to predict the pathogenicity of these genetic mutations and establish potential links between genotypic alterations and the clinical phenotypes of MSUD.

designRetrospective population-based cohort.

methodsWe analyzed 20 MSUD patients from the Children's Hospital at Zhejiang University School of Medicine (Hangzhou, China), recorded from January 2010 to December 2023. Patients' blood samples were collected by heel-stick through neonatal screening, and amino acid profiles were measured by tandem mass spectrometry. In silico methods were employed to assess the pathogenicity, stability and biophysical properties. Various computation tools were utilized for assessment, namely PredictSNP, MAGPIE, iStable, Align GVGD, ConSurf and SNP effect.

resultsWe detected 25 distinct mutations, including 12 novel mutations. The BCKDHB gene was the most commonly affected (53.3%) compared to the BCKDHA gene (20.0%) and DBT gene (26.7%). In silico webservers predicted all novel mutations were disease-causing.

conclusionsThis study highlights the genetic complexity of MSUD and underscores the importance of early detection and intervention. Integrating neonatal screening with advanced sequencing methodologies is pivotal in ensuring precise diagnosis and effective management of MSUD, thereby significantly improving the prognosis for individuals afflicted with this condition.

Indexed as

GenotypeMaple Syrup Urine DiseaseMutationPhenotype3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)ChinaFemaleHumansInfantInfant, NewbornMaleNeonatal ScreeningRetrospective Studies3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)

Identifiers

PMID38837343
PMCPMC11604211

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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.