ArticleOrphanet journal of rare diseases2019
Distinct clinical, neuroimaging and genetic profiles of late-onset cobalamin C defects (cb1C): a report of 16 Chinese cases.
Article in Orphanet journal of rare diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 3 of them syntheses that pooled it.
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Who cites it
21 citing papers in PubMed, 3 syntheses or guidelines pooled it, 35 citations in OpenAlex.
- Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review.Orphanet journal of rare diseases · 2024Pooled it
- 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
- Advanced Ophthalmic Drug Delivery in Homocystinuria Type CblC: A Translational Review of Ophthalmic Pathologies and Therapeutic Opportunities.Pharmaceutics · 2026Review
- Late-onset cobalamin C defect with a rare MMACHC c.457 C > T variant: a case report and literature review.BMC pediatrics · 2026Review
- Clinical and genetic characteristics of late-onset cobalamin C deficiency: A multicenter study in northern China.Intractable & rare diseases research · 2025Article
- Article
- A study of Iraqi patients with homocysteine remethylation disorders in a tertiary pediatric centre.Molecular genetics and metabolism reports · 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
- Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.World journal of pediatrics : WJP · 2024Article
- Case presentation: a severe case of cobalamin c deficiency presenting with nephrotic syndrome, malignant hypertension and hemolytic anemia.BMC nephrology · 2024Article
- Late-onset cobalamin C deficiency type in adult with cognitive and behavioral disturbances and significant cortical atrophy and cerebellar damage in the MRI: a case report.Frontiers in neurology · 2023Article
- Differences in the Formation of Reactive Oxygen Species and Their Cytotoxicity between Thiols Combined with Aqua- and Cyanocobalamins.International journal of molecular sciences · 2022Article
- Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists.Orphanet journal of rare diseases · 2022Review
- Late-onset cobalamin C disease presenting with acute cerebellar ataxia.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Adult-onset hypoxaemia, diffuse lung lesions, and pulmonary hypertension in cobalamin C defect: a case report.European heart journal. Case reports · 2021Article
- Adolescent/adult-onset homocysteine remethylation disorders characterized by gait disturbance with/without psychiatric symptoms and cognitive decline: a series of seven cases.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- A high frequency and geographical distribution of MMACHC R132* mutation in children with cobalamin C defect.Amino acids · 2021Article
- Peripheral Nervous System Involvement in Late-Onset Cobalamin C Disease?Frontiers in neurology · 2020Article
- High-dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency.JIMD reports · 2020Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveThe importance of late-onset cobalamin C (cblC) disorder is underestimated in adults. Improved awareness on its clinical and neuroimaging features helps timely diagnosis and appropriate treatment.
methodsTotally 16 late-onset cblC cases were diagnosed based on clinical, biochemical findings and MMAHC gene mutation analysis. Clinical presentations, neuroimaging features and mutational spectrum were reviewed.
resultsThe case series included 10 males and 6 females, with average age of 22 (range 13-40) years. All the 16 patients displayed bilateral pyramidal tract signs, and most of the cases (13) had cognitive impairment. Other symptoms included psychiatric symptoms (6), epilepsy (6), peripheral nerve damage (5), ocular symptoms (4) and lower-limb thrombosis (1). The neuroimaging findings were dominated by cerebral atrophy (11/16), followed by white matter lesions (4), cerebellar lesions/atrophy (2) and spinal cord lesions (1). There were also 2 patients with normal imaging. All the MMACHC mutations were compound heterozygous, of which the most and second frequent was c.482G > A (p.R161Q; 15/16 case; allele frequency: 46.88%) and c.609G > A(p.W203X; 6/16 case; allele frequency: 18.75%). In addition, patients carrying frameshift mutations (deletion/duplication) presented more frequently with psychiatric symptoms (57.1%) and optic nerve damages (42.9%) than those carrying point mutations (22.2 and 11.1%, respectively). In contrast, peripheral nerve (44.4%) and white matter lesions (33.3%) were more frequently identified in point mutation- carriers. However, the differences did not achieve statistical significance (all p > 0.05).
conclusionCompared to the early-onset form, late-onset cblC displayed some clinical, neuroimaging and mutational profiles, which warrants particular attention in adult neurologic practice. These findings not only broaden our insights into the genotypes and phenotypes of the disease, but highlight the importance of early diagnosis and initiation of appropriate treatments.
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