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2021 8
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Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy.
Chern T, Achilleos A, Tong X, Hill MC, Saltzman AB, Reineke LC, Chaudhury A, Dasgupta SK, Redhead Y, Watkins D, Neilson JR, Thiagarajan P, Green JBA, Malovannaya A, Martin JF, Rosenblatt DS, Poché RA. Chern T, et al. Nat Commun. 2022 Jan 10;13(1):134. doi: 10.1038/s41467-021-27759-7. Nat Commun. 2022. PMID: 35013307 Free PMC article.
Combined methylmalonic acidemia and homocystinuria (cblC) is the most common inborn error of intracellular cobalamin metabolism and due to mutations in Methylmalonic Aciduria type C and Homocystinuria (MMACHC). Recently, mutations …
Combined methylmalonic acidemia and homocystinuria (cblC) is the most common inborn error of intracellular cobalamin me …
Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists.
Kalantari S, Brezzi B, Bracciamà V, Barreca A, Nozza P, Vaisitti T, Amoroso A, Deaglio S, Manganaro M, Porta F, Spada M. Kalantari S, et al. Orphanet J Rare Dis. 2022 Feb 2;17(1):33. doi: 10.1186/s13023-022-02179-y. Orphanet J Rare Dis. 2022. PMID: 35109910 Free PMC article. Review.
BACKGROUND: Methylmalonic aciduria and homocystinuria, CblC type (OMIM #277400) is the most common disorder of cobalamin intracellular metabolism, an autosomal recessive disease, whose biochemical hallmarks are hyperhomocysteinemia, methylmalonic …
BACKGROUND: Methylmalonic aciduria and homocystinuria, CblC type (OMIM #277400) is the most common disorder of c …
Late-onset cblC defect: clinical, biochemical and molecular analysis.
Ding S, Ling S, Liang L, Qiu W, Zhang H, Chen T, Zhan X, Xu F, Gu X, Han L. Ding S, et al. Orphanet J Rare Dis. 2023 Sep 28;18(1):306. doi: 10.1186/s13023-023-02890-4. Orphanet J Rare Dis. 2023. PMID: 37770946 Free PMC article.
BACKGROUND: cblC 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 …
BACKGROUND: cblC defect is the most common type of methylmalonic acidemia in China. Patients with late-onset for …
Spectrum of genetic mutations in methylmalonic aciduria among Iranian patients.
Fathi M, Khalilian S, Miryounesi M, Ghafouri-Fard S. Fathi M, et al. Sci Rep. 2025 May 12;15(1):16389. doi: 10.1038/s41598-025-01563-5. Sci Rep. 2025. PMID: 40355523 Free PMC article.
Methylmalonic aciduria (MMA) is described by high methylmalonic acid concentrations in the blood and urine. This condition can be isolated or in combination with homocystinuria. While variants in the MMUT, MMAA, MMAB, MMADHC and MCEE genes contribute t …
Methylmalonic aciduria (MMA) is described by high methylmalonic acid concentrations in the blood and urine. This condition can …
Analysis of hydroxocobalamin dosage in patients with CblC deficiency.
Ding S, Deng Y, Ding Y, Hao L, Qiu W, Zhang H, Liang L, Chen T, Zhan X, Xu P, Yang C, Zou H, Chen Y, Wu S, Wang Y, Yang M, Gu X, Jiao X, Han L. Ding S, et al. Orphanet J Rare Dis. 2025 Aug 21;20(1):448. doi: 10.1186/s13023-025-03991-y. Orphanet J Rare Dis. 2025. PMID: 40841656 Free PMC article.
OBJECTIVE: cblC deficiency is the most common organic acidemia in China. Hydroxocobalamin (OHCbl) is the main important therapeutic approach, while no approved protocols on its dosage during stable periods exist. This study aims to analyze OHCbl dosage and explore its infl …
OBJECTIVE: cblC deficiency is the most common organic acidemia in China. Hydroxocobalamin (OHCbl) is the main important therapeutic a …
Investigation on a MMACHC mutant from cblC disease: The c.394C>T variant.
Passantino R, Mangione MR, Ortore MG, Costa MA, Provenzano A, Amenitsch H, Sabbatella R, Alfano C, Martorana V, Vilasi S. Passantino R, et al. Biochim Biophys Acta Proteins Proteom. 2022 Jun 1;1870(6):140793. doi: 10.1016/j.bbapap.2022.140793. Epub 2022 May 23. Biochim Biophys Acta Proteins Proteom. 2022. PMID: 35618206
The cblC disease is an inborn disorder of the vitamin B12 (cobalamin, Cbl) metabolism characterized by methylmalonic aciduria and homocystinuria. ...Insights on the fragile stability of MMACHC-R132X-Cbl are provided....
The cblC disease is an inborn disorder of the vitamin B12 (cobalamin, Cbl) metabolism characterized by methylmalonic acidur …
Epimutation of MMACHC compound to a genetic mutation in cblC cases.
Zhang X, Chen Q, Song Y, Guo P, Wang Y, Luo S, Zhang Y, Zhou C, Li D, Chen Y, Wei H. Zhang X, et al. Mol Genet Genomic Med. 2021 Jun;9(6):e1625. doi: 10.1002/mgg3.1625. Epub 2021 May 12. Mol Genet Genomic Med. 2021. PMID: 33982424 Free PMC article.
BACKGROUND: Methylmalonic aciduria (MMA) combined with homocystinuria, cobalamin(cbl)C deficiency type (OMIM 277400), is the most common autosomal recessive inherited disorder of intracellular cobalamin metabolism caused by mutations in the M …
BACKGROUND: Methylmalonic aciduria (MMA) combined with homocystinuria, cobalamin(cbl)C deficiency type (O …
Clinical and Molecular Spectrum of Patients with Methylmalonic Acidemia.
Gupta N, Endrakanti M, Bhat M, Rao N, Kaur R, Kabra M. Gupta N, et al. Indian J Pediatr. 2024 Jul;91(7):675-681. doi: 10.1007/s12098-023-04651-4. Epub 2023 Jul 8. Indian J Pediatr. 2024. PMID: 37420116
Biochemical work-up was suggestive of isolated MMA (n = 18) and MMA with homocystinuria (n = 9) respectively. Molecular testing in 24 families showed 21 pathogenic or likely pathogenic variants with MMA cblC as the commonest molecular subtype (n = 8). ...CONC …
Biochemical work-up was suggestive of isolated MMA (n = 18) and MMA with homocystinuria (n = 9) respectively. Molecular testin …
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B(12).
Oussalah A, Siblini Y, Hergalant S, Chéry C, Rouyer P, Cavicchi C, Guerrini R, Morange PE, Trégouët D, Pupavac M, Watkins D, Pastinen T, Chung WK, Ficicioglu C, Feillet F, Froese DS, Baumgartner MR, Benoist JF, Majewski J, Morrone A, Rosenblatt DS, Guéant JL. Oussalah A, et al. Clin Epigenetics. 2022 Apr 19;14(1):52. doi: 10.1186/s13148-022-01271-1. Clin Epigenetics. 2022. PMID: 35440018 Free PMC article.
METHODS: We unraveled the methylome architecture of the CCDC163P-MMACHC CpG island (CpG:33) and the TESK2 CpG island (CpG:51) of 17 epi-cblC cases. We performed an integrative analysis of the DNA methylome profiling, transcriptome reconstruction of RNA-sequencing (R …
METHODS: We unraveled the methylome architecture of the CCDC163P-MMACHC CpG island (CpG:33) and the TESK2 CpG island (CpG:51) of 17 e …
Missense mutations in MMACHC protein from cblC disease affect its conformational stability and vitamin B12-binding activity: The example of R161Q mutation.
Longo L, Randazzo L, Bollati M, Carrotta R, Costa MA, De Rosa M, Mangione MR, Martorana V, Culletta G, Tutone M, Mari E, Ortore MG, Garcia-Franco PM, Velazquez-Campoy A, Passantino R, Vilasi S. Longo L, et al. Mol Genet Metab. 2025 Jul;145(3):109150. doi: 10.1016/j.ymgme.2025.109150. Epub 2025 May 22. Mol Genet Metab. 2025. PMID: 40441036 Free article.
Mutations in the gene encoding MMACHC lead to the rare metabolic disorder known as methylmalonic aciduria and homocystinuria, cblC type. ...This suggests a direct correlation between the energetics of MMACHC thermal unfolding and its func …
Mutations in the gene encoding MMACHC lead to the rare metabolic disorder known as methylmalonic aciduria and homocysti …
57 results