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

Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years' experience of a medical center in northern Vietnam.

Journal of inherited metabolic disease - 1 May 2017

Nguyen Khanh Ngoc, Abdelkreem Elsayed, Colombo Roberto, Hasegawa Yuki, Can Ngoc Thi Bich, Bui Thao Phuong, Le Hai Thanh, Tran Mai Thi Chi, Nguyen Hoan Thi, Trinh Hung Thanh, Aoyama Yuka, Sasai Hideo, Yamaguchi Seiji, Fukao Toshiyuki, Vu Dung Chi

Abstract excerpt

Beta-ketothiolase (T2) deficiency is an inherited disease of isoleucine and ketone body metabolism caused by mutations in the ACAT1 gene. Between 2005 and 2016, a total of 41 patients with T2 deficiency were identified at a medical center in northern Vietnam, with an estimated incidence of one in 190,000 newborns. Most patients manifested ketoacidotic episodes of varying severity between 6 and 18 months of age....

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Amino Acid Metabolism, Inborn Errors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Haplotypes

Share to Infant, Newborn

Share to Metabolism and Genetic Disorders

Share to Mutation

Share to Neonatal Screening

Share to Vietnam

Source

Identifiers

PMID: 28220263
DOI: 10.1007/s10545-017-0026-6

Genes

ACAT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years' experience of a medical center in northern Vietnam.PMID 28220263Read ↗

Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.Semantic proximity Read ↗

[A case of β-ketothiolase deficiency caused by ACAT1 gene variations with atypical biochemical phenotype].Semantic proximity Read ↗

C4OH is a Potential Screening Marker - A Multicenter Retrospective Study of Patients with Beta-Ketothiolase Deficiency in ChinaSemantic proximity Read ↗

A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.Semantic proximity Read ↗

[Analysis of ACAT1 gene variants in a patient with β-ketothiolase deficiency].Semantic proximity Read ↗

2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathwaysSemantic proximity Read ↗

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

Mutation spectrum of Tyrosinemia type I in Iran, A retrospective cohort study.Semantic proximity Read ↗

Analysis of the clinical phenotype and genotype features of 5 cases of beta-ketothiolase deficiency.Semantic proximity Read ↗

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome in Vietnamese PatientsSemantic proximity Read ↗

Different clinical presentation in siblings with mitochondrial acetoacetyl-CoA thiolase deficiency and identification of two novel mutations.Semantic proximity Read ↗

Nonketotic Hyperglycinemia in Tunisia. Report upon a Series of 69 Patients.Semantic proximity Read ↗

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