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

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

BMC pediatrics - 23 Mar 2026

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

Abstract excerpt

OBJECTIVES: This 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. METHODS: The clinical features, biochemical parameters, imaging findings, and genetic variations in 16 previously documented Chinese patients with HMGLD, along with one newly reported case...

Read the complete abstract on PubMed

Topics

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

Share to Acetyl-CoA C-Acetyltransferase
Share to Adolescent

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Amino Acid Metabolism, Inborn Errors

Share to East Asian People

Share to Mutation

Share to Oxo-Acid-Lyases

Source

Open in PubMed Open full text

Identifiers

PMID: 41872807
DOI: 10.1186/s12887-026-06731-8
PMCID: PMC13130593

Genes

HMGCL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency in an adolescent male: a case report and narrative review of Chinese patients.PMID 41872807Read ↗

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: One disease- many facesSemantic proximity Read ↗

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces.Semantic proximity Read ↗

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.Semantic proximity Read ↗

[3-Hydroxy-isobutyryl-CoA hydrolase deficiency in a child with Leigh-like syndrome and literature review].Semantic proximity Read ↗

Perioperative Anesthetic Considerations in 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency: Case Report and Literature ReviewSemantic proximity Read ↗

Molecular analysis of Taiwanese patients with 3-hydroxy-3-methylglutaryl CoA lyase deficiency.Semantic proximity Read ↗

Mitochondrial HMG-CoA Synthase Deficiency in Vietnamese PatientsSemantic proximity Read ↗

[Late onset 3-HMG-CoA lyase deficiency: a rare but treatable disorder].Semantic proximity Read ↗

Late-onset methylmalonic acidemia with a rare MMACHC c.457C>T mutation: a case report and literature reviewSemantic proximity Read ↗

Clinical, Biochemical and Molecular Characterizations of Patients With Glutaric Aciduria Type 1 in Henan Province, ChinaSemantic proximity Read ↗

Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations.Semantic proximity Read ↗

Expanding the clinical spectrum of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency with Turkish cases harboring novel HMGCS2 gene mutations and literature review.Semantic proximity Read ↗

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