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

Evaluation of the clinical, biochemical, and molecular spectrum of Cobalamin C (CblC) defect in 33 patients from Pakistan.

Scandinavian journal of clinical and laboratory investigation - 1 Oct 2024

Ahmed Sibtain, Cai Ling, Akbar Fizza, Siddiqui Ayra, DeBerardinis Ralph J, Ni Min, Vu Hieu, Afroze Bushra

Abstract excerpt

BACKGROUND: Cobalamin C is the most common inborn error of intracellular cobalamin metabolism caused by biallelic pathogenic variants in the MMACHC gene, leading to impaired conversion of dietary vitamin B12 into its two metabolically active forms, methylcobalamin and adenosylcobalamin. Biochemical hallmarks are elevated plasma total homocysteine (HCYs) and low methionine accompanied by methylmalonic aciduria....

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Metabolism, Inborn Errors
Share to Carrier Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homocysteine

Share to Infant

Share to Oxidoreductases

Share to Pakistan

Share to Vitamin B 12

Share to Vitamin B 12 Deficiency

Source

Identifiers

PMID: 39225018
DOI: 10.1080/00365513.2024.2394983

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Evaluation of the clinical, biochemical, and molecular spectrum of Cobalamin C (CblC) defect in 33 patients from Pakistan.PMID 39225018Read ↗

Distinct clinical, neuroimaging and genetic profiles of late-onset cobalamin C defects (cb1C): a report of 16 Chinese casesSemantic proximity Read ↗

Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#.Semantic proximity Read ↗

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.Semantic proximity Read ↗

Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.Semantic proximity Read ↗

Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases.Semantic proximity Read ↗

Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment.Semantic proximity Read ↗

Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation.Semantic proximity Read ↗

Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C diseaseSemantic proximity Read ↗

Mutation spectrum of MMACHC in Chinese pediatric patients with cobalamin C disease: A case series and literature reviewSemantic proximity Read ↗

Identification of MMACHC and PROKR2 mutations causing coexistent cobalamin C disease and Kallmann syndrome in a young woman.Semantic proximity Read ↗

Identification of MMACHC and ZEB2 mutations causing coexistent cobalamin C disease and Mowat-Wilson syndrome in a 2-year-old girl.Semantic proximity Read ↗

Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients.Semantic proximity Read ↗

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