ArticleJournal of inherited metabolic disease2014
Clinical presentation and outcome in a series of 88 patients with the cblC defect.
Article in Journal of inherited metabolic disease, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers, 3 of them syntheses that pooled it.
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Who cites it
82 citing papers in PubMed, 3 syntheses or guidelines pooled it, 165 citations in OpenAlex.
- Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin BCell reports. Medicine · 2022Pooled it
- Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review.Human genetics · 2022Pooled it
- Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.Journal of inherited metabolic disease · 2015Pooled it
- Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.Journal of inherited metabolic disease · 2026Review
- Genomic sequencing and the urgency of early diagnosis in inborn errors of metabolism.Pediatric research · 2026Article
- Late-onset severe axonal polyneuropathy in mut0 methylmalonic acidemia after liver-kidney transplantation: a genotype-informed case report.BMC neurology · 2026Article
- Clinical Outcomes and Correlation With Biochemical Control in Hydroxocobalamin-Treated Patients With Early-Onset Cobalamin C Disease.JIMD reports · 2026Article
- Mechanisms of Microglial NLRP3 Inflammasome Activation by Methylmalonic Acid in Methylmalonic Acidemia.Mediators of inflammation · 2026Article
- Efficacy and organ protective effects of continuous renal replacement therapy in children with organic acidemia complicated by decompensated acidosis: a retrospective study in PICU.Orphanet journal of rare diseases · 2025Article
- Clinical and genetic characteristics of late-onset cobalamin C deficiency: A multicenter study in northern China.Intractable & rare diseases research · 2025Article
- First pathogenic non-coding variant in MMACHC: a functional deletion in the 5'-UTR associated with cobalamin C deficiency.Molecular biology reports · 2025Article
- Accelerating the diagnosis of Chinese cblC type MMA patients by multiplex PCR sequencing method.Pediatric research · 2025Article
- Analysis of hydroxocobalamin dosage in patients with CblC deficiency.Orphanet journal of rare diseases · 2025Article
- Clinical diagnosis, treatment, and genetic analysis of adolescent onset holocarboxylase synthetase deficiency and cobalamin C deficiency: A case report and literature review.Metabolism open · 2025Article
- Long-term follow-up of Chinese patients with methylmalonic acidemia of the cblC and mut subtypes.Pediatric research · 2025Article
- Article
- Characteristics of clinical manifestations and molecular genetics of inherited hyperhomocysteinemia in children and adolescents: a single center experience from China.Frontiers in neurology · 2025Article
- Improved biochemical and neurodevelopmental profiles with high-dose hydroxocobalamin therapy in cobalamin C defect.Journal of inherited metabolic disease · 2025Article
- Diverse Clinical manifestations of Cobalamin C Metabolism Disorders.Iranian journal of child neurology · 2025Article
- A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics.Molecular genetics and metabolism reports · 2024Article
22 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
28 authors at 20 institutions in 12 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledThe cblC defect is the most common inborn error of vitamin B12 metabolism. Despite therapeutic measures, the long-term outcome is often unsatisfactory. This retrospective multicentre study evaluates clinical, biochemical and genetic findings in 88 cblC patients. The questionnaire designed for the study evaluates clinical and biochemical features at both initial presentation and during follow up. Also the development of severity scores allows investigation of individual disease load, statistical evaluation of parameters between the different age of presentation groups, as well as a search for correlations between clinical endpoints and potential modifying factors.
resultsNo major differences were found between neonatal and early onset patients so that these groups were combined as an infantile-onset group representing 88 % of all cases. Hypotonia, lethargy, feeding problems and developmental delay were predominant in this group, while late-onset patients frequently presented with psychiatric/behaviour problems and myelopathy. Plasma total homocysteine was higher and methionine lower in infantile-onset patients. Plasma methionine levels correlated with "overall impression" as judged by treating physicians. Physician's impression of patient's well-being correlated with assessed disease load. We confirmed the association between homozygosity for the c.271dupA mutation and infantile-onset but not between homozygosity for c.394C>T and late-onset. Patients were treated with parenteral hydroxocobalamin, betaine, folate/folinic acid and carnitine resulting in improvement of biochemical abnormalities, non-neurological signs and mortality. However the long-term neurological and ophthalmological outcome is not significantly influenced. In summary the survey points to the need for prospective studies in a large cohort using agreed treatment modalities and monitoring criteria.
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