ArticleOrphanet journal of rare diseases2023
Late-onset cblC defect: clinical, biochemical and molecular analysis.
Article in Orphanet journal of rare diseases, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 9 citations in OpenAlex.
- Exploration of Metabolic Alterations in Methylmalonic Acidemia across Distinct Genetic Backgrounds.ACS omega · 2026Article
- Newborn screening for methylmalonic acidemia: insights from a retrospective analysis in Hefei, China.Orphanet journal of rare diseases · 2026Article
- Polydactyly and syndactyly in a Chinese family with Floating-Harbor syndrome: an expansion of the clinical phenotype.Frontiers in genetics · 2026Article
- Assessment of blood cobalt levels and safety of long-term hydroxocobalamin therapy in patients with cblC defect.Frontiers in nutrition · 2026Article
- Encephalitis-like presentation of methylmalonic acidemia with homocystinuria in a postpartum woman: a case report.Frontiers in psychiatry · 2026Article
- Clinical and genetic characteristics of late-onset cobalamin C deficiency: A multicenter study in northern China.Intractable & rare diseases research · 2025Article
- Analysis of hydroxocobalamin dosage in patients with CblC deficiency.Orphanet journal of rare diseases · 2025Article
- Long-term outcome of CblC deficiency complicated with pulmonary hypertension.Orphanet journal of rare diseases · 2025Article
- Long-term follow-up of Chinese patients with methylmalonic acidemia of the cblC and mut subtypes.Pediatric research · 2025Article
- Article
- The utility of methylmalonic acid, methylcitrate acid, and homocysteine in dried blood spots for therapeutic monitoring of three inherited metabolic diseases.Frontiers in nutrition · 2024Article
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundcblC defect is the most common type of methylmalonic acidemia in China. Patients with late-onset form (>1 year) are often misdiagnosed due to heterogeneous symptoms. This study aimed to describe clinical characteristics and evaluate long-term outcomes of Chinese patients with late-onset cblC defect.
methodsA total of 85 patients with late-onset cblC defect were enrolled. Clinical data, including manifestations, metabolites, molecular diagnosis, treatment and outcome, were summarized and analyzed.
resultsThe age of onset ranged from 2 to 32.8 years old (median age 8.6 years, mean age 9.4 years). The time between first symptoms and diagnosis ranged from a few days to 20 years (median time 2 months, mean time 20.7 months). Neuropsychiatric symptoms were presented as first symptoms in 68.2% of cases, which were observed frequently in schoolchildren or adolescents. Renal involvement and cardiovascular disease were observed in 20% and 8.2% of cases, respectively, which occurred with the highest prevalence in preschool children. Besides the initial symptoms, the disease progressed in most patients and cognitive decline became the most frequent symptom overall. The levels of propionylcarnitine, propionylcarnitine / acetylcarnitine ratio, methylmalonic acid, methylcitric acid and homocysteine, were decreased remarkably after treatment (P<0.001). Twenty-four different mutations of MMACHC were identified in 78 patients, two of which were novel. The c.482G>A variant was the most frequent mutated allele in this cohort (25%). Except for 16 patients who recovered completely, the remaining patients were still left with varying degrees of sequelae in a long-term follow-up. The available data from 76 cases were analyzed by univariate analysis and multivariate logistic regression analysis, and the results showed that the time from onset to diagnosis (OR = 1.025, P = 0. 024) was independent risk factors for poor outcomes.
conclusionsThe diagnosis of late-onset cblC defect is often delayed due to poor awareness of its various and nonspecific symptoms, thus having an adverse effect on the prognosis. It should be considered in patients with unexplained neuropsychiatric and other conditions such as renal involvement, cardiovascular diseases or even multiple organ damage. The c.482G>A variant shows the highest frequency in these patients. Prompt treatment appears to be beneficial.
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