Evidence map›Paper›PMID 40105081›Full record

ReviewZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics2025

[Two cases of creatine deficiency syndrome caused by

Ting-Ting Zhao, Zou Pan, Jian-Min Zhong, Hai-Yun Tang, Fei Yin, Jing Peng, Chen Chen

Abstract readCase ReportsReviewEnglish Abstract
PubMed Full text at PMC Publisher
In one paragraph

Review in Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
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1 · What the graph read from it

What it found

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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

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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

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0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Ting-Ting ZhaoChildren's Medical Center, Xiangya Hospital, Central South University, Changsha 410008, China.
Zou PanChildren's Medical Center, Xiangya Hospital, Central South University, Changsha 410008, China.
Jian-Min Zhong
Hai-Yun Tang
Fei YinChildren's Medical Center, Xiangya Hospital, Central South University, Changsha 410008, China.
Jing PengChildren's Medical Center, Xiangya Hospital, Central South University, Changsha 410008, China.
Chen ChenChildren's Medical Center, Xiangya Hospital, Central South University, Changsha 410008, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesTo summarize the clinical manifestations and genetic characteristics of creatine deficiency syndrome (CDS) caused by

methodsA retrospective analysis was conducted on the clinical and genetic data of two children diagnosed with GAMT deficiency-type CDS at the Children's Medical Center of Xiangya Hospital, Central South University, from December 2020 to December 2024.

resultsThe two patients presented with symptoms in infancy, and both had compound heterozygous mutations in the

conclusionsGAMT deficiency-type CDS is rare and presents with nonspecific clinical features. Timely diagnosis facilitates targeted treatment, which can partially improve prognosis.

Indexed as

CreatineGuanidinoacetate N-MethyltransferaseMutationRhabdomyolysisChildFemaleHumansIntellectual DisabilityLanguage Development DisordersMaleMovement DisordersRetrospective StudiesCreatineGAMT protein, humanGuanidinoacetate N-MethyltransferaseChildCreatine deficiency syndromeEpilepsyGAMT geneGene mutationIntellectual disability

Identifiers

PMID40105081
PMCPMC11928038

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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.