Evidence map›Paper›PMID 41872807›Full record

ReviewBMC pediatrics2026

3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency in an adolescent male: a case report and narrative review of Chinese patients.

Kun Yang, Yuanda Zhang, Lili Zang, Ying Liu, Yajuan Li, Wenhuan Wang, Ping Zhang, Ze Zhao, Lei Tian, Jingxia Liu

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

Review in BMC pediatrics, 2026. 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
–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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

10 authors.

Kun YangDepartment of Pediatrics, Baoding Hospital of Beijing Children's Hospital Affiliated to Capital Medical University, Baoding, Hebei province, 071000, China. 9649146@qq.com.
Yuanda ZhangClinical Nutrition, Baoding Hospital of Beijing Children's Hospital Affiliated to Capital Medical University, Baoding, Hebei province, 071000, China.
Lili ZangDepartment of Radiology, Baoding Hospital of Beijing Children's Hospital Affiliated to Capital Medical University, Baoding, Hebei province, 071000, China.
Ying LiuDepartment of Pediatrics, Baoding Hospital of Beijing Children's Hospital Affiliated to Capital Medical University, Baoding, Hebei province, 071000, China.
Yajuan LiBaoding Jingxiu District Hospital, Baoding, Hebei province, 071051, China.
Wenhuan WangDepartment of Pediatrics, Baoding Hospital of Beijing Children's Hospital Affiliated to Capital Medical University, Baoding, Hebei province, 071000, China.
Ping ZhangDepartment of Pediatrics, Baoding Hospital of Beijing Children's Hospital Affiliated to Capital Medical University, Baoding, Hebei province, 071000, China.
Ze ZhaoDepartment of Pediatrics, Baoding Hospital of Beijing Children's Hospital Affiliated to Capital Medical University, Baoding, Hebei province, 071000, China.
Lei TianDepartment of Pediatrics, Baoding Hospital of Beijing Children's Hospital Affiliated to Capital Medical University, Baoding, Hebei province, 071000, China.
Jingxia LiuDepartment of Pediatrics, Baoding Hospital of Beijing Children's Hospital Affiliated to Capital Medical University, Baoding, Hebei province, 071000, China.

Funding

Baoding City Science and Technology and Intellectual Property Bureau 2441ZF126
6 · The paper itself

Abstract

objectivesThis study aimed to examine the clinical characteristics of Chinese patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGLD) and identify the prevalent mutations in the HMGCL gene among these patients.

methodsThe clinical features, biochemical parameters, imaging findings, and genetic variations in 16 previously documented Chinese patients with HMGLD, along with one newly reported case in this study, were comprehensively analyzed.

resultsWithin the cohort of Chinese patients with HMGLD, 76.5% were diagnosed during infancy, while 35.3% were identified through newborn screening protocols. Acute metabolic disturbances were reported in 88.2% of patients, with neurological manifestations—particularly coma and unconsciousness—presenting as the initial symptoms in 58.9% of cases, and vomiting occurring in 52.9%. Imaging revealed white matter abnormalities in 47.1% of patients and basal ganglia alterations in 17.6%. The homozygous c.122G > A mutation emerged as the predominant genetic variant among Chinese patients with HMGLD, followed by the c.252 + 1G > A mutation.

conclusionsHMGLD is a rare metabolic disorder with significant mortality rates, highlighting the necessity for early diagnosis to prevent metabolic crises. This study is the first to report a case of adolescent-onset HMGLD and characterize the clinical presentation of Chinese patients with the disorder. The study additionally identified a novel homozygous c.133 C > T/p.Gln45Ter mutation in the HMGCL gene.

Indexed as

Amino Acid Metabolism, Inborn ErrorsOxo-Acid-LyasesAcetyl-CoA C-AcetyltransferaseAdolescentChinaEast Asian PeopleHumansMaleMutation3-hydroxy-3-methylglutaryl-coenzyme A lyaseAcetyl-CoA C-AcetyltransferaseOxo-Acid-Lyases3-hydroxy-3-methylglutaryl-CoA lyase deficiencyChinese patient cohortHMGCL gene mutationsLeukoencephalopathyRare metabolic disorders

Identifiers

PMID41872807
PMCPMC13130593

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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.