Case report: A late-onset cobalamin C defect first presenting as a depression in a teenager
Background: The cobalamin C (cblC) defect, a common inborn disorder of cobalamin metabolism due to a genetic mutation in MMACHC, can cause combined methylmalonic acid and homocysteine accumulation in blood, urine, or both. In this article, a late-onset case was reported, and the patient first presen...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-10-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.1012558/full |
| _version_ | 1797985790127505408 |
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| author | Siqi Cheng Weihong Chen Mingmin Zhao Xing Xing Lei Zhao Bowen Ren Na Li |
| author_facet | Siqi Cheng Weihong Chen Mingmin Zhao Xing Xing Lei Zhao Bowen Ren Na Li |
| author_sort | Siqi Cheng |
| collection | DOAJ |
| description | Background: The cobalamin C (cblC) defect, a common inborn disorder of cobalamin metabolism due to a genetic mutation in MMACHC, can cause combined methylmalonic acid and homocysteine accumulation in blood, urine, or both. In this article, a late-onset case was reported, and the patient first presented with depression identified with the MMACHC gene. We summarized the clinical features of the cblC defect, the relationship between genotype and phenotype, and the clinical experience concerning the diagnosis and treatment of the cblC defect.Case presentation: Initially presented with depression, the 16-year-old female patient showed progressive abnormal gait and bilateral lower limb weakness after 3 months. Blood routine examination suggested severe hyperhomocysteinemia, and screening for urine organic acids found elevated methylmalonic acid. Family gene sequencing showed mutations detected in MMACHC. She had a compound heterozygous mutation, while the c.271dupA (p.R91Kfs∗14) was only detected in her father and the c.482 G>A (p.R161Q) was only detected in her mother. Hence, she was diagnosed with a cblC defect and treated with B vitamin supplements. The muscle strength of both lower limbs improved notably.Conclusion: This case indicated that depression could be a presenting sign of cblC-type methylmalonic aciduria and homocysteinemia, and enhanced the genotype–phenotype relationship of the cblC defect, which will contribute to further understanding of this emerging disease. |
| first_indexed | 2024-04-11T07:22:34Z |
| format | Article |
| id | doaj.art-d7c0f86f4dbd4f2389166d51455d450c |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-04-11T07:22:34Z |
| publishDate | 2022-10-01 |
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| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-d7c0f86f4dbd4f2389166d51455d450c2022-12-22T04:37:09ZengFrontiers Media S.A.Frontiers in Genetics1664-80212022-10-011310.3389/fgene.2022.10125581012558Case report: A late-onset cobalamin C defect first presenting as a depression in a teenagerSiqi Cheng0Weihong Chen1Mingmin Zhao2Xing Xing3Lei Zhao4Bowen Ren5Na Li6Department of Neurology, Hebei General Hospital, Shijiazhuang, ChinaDepartment of Neurology, Hebei General Hospital, Shijiazhuang, ChinaGraduate School, Hebei North University, Chengde, ChinaDepartment of Neurology, Hebei General Hospital, Shijiazhuang, ChinaDepartment of Neurology, Hebei General Hospital, Shijiazhuang, ChinaDepartment of Neurology, Hebei General Hospital, Shijiazhuang, ChinaDepartment of Neurology, Hebei General Hospital, Shijiazhuang, ChinaBackground: The cobalamin C (cblC) defect, a common inborn disorder of cobalamin metabolism due to a genetic mutation in MMACHC, can cause combined methylmalonic acid and homocysteine accumulation in blood, urine, or both. In this article, a late-onset case was reported, and the patient first presented with depression identified with the MMACHC gene. We summarized the clinical features of the cblC defect, the relationship between genotype and phenotype, and the clinical experience concerning the diagnosis and treatment of the cblC defect.Case presentation: Initially presented with depression, the 16-year-old female patient showed progressive abnormal gait and bilateral lower limb weakness after 3 months. Blood routine examination suggested severe hyperhomocysteinemia, and screening for urine organic acids found elevated methylmalonic acid. Family gene sequencing showed mutations detected in MMACHC. She had a compound heterozygous mutation, while the c.271dupA (p.R91Kfs∗14) was only detected in her father and the c.482 G>A (p.R161Q) was only detected in her mother. Hence, she was diagnosed with a cblC defect and treated with B vitamin supplements. The muscle strength of both lower limbs improved notably.Conclusion: This case indicated that depression could be a presenting sign of cblC-type methylmalonic aciduria and homocysteinemia, and enhanced the genotype–phenotype relationship of the cblC defect, which will contribute to further understanding of this emerging disease.https://www.frontiersin.org/articles/10.3389/fgene.2022.1012558/fullCblC defectMMACHCdepressiongenotype–phenotype correlationcase report |
| spellingShingle | Siqi Cheng Weihong Chen Mingmin Zhao Xing Xing Lei Zhao Bowen Ren Na Li Case report: A late-onset cobalamin C defect first presenting as a depression in a teenager Frontiers in Genetics CblC defect MMACHC depression genotype–phenotype correlation case report |
| title | Case report: A late-onset cobalamin C defect first presenting as a depression in a teenager |
| title_full | Case report: A late-onset cobalamin C defect first presenting as a depression in a teenager |
| title_fullStr | Case report: A late-onset cobalamin C defect first presenting as a depression in a teenager |
| title_full_unstemmed | Case report: A late-onset cobalamin C defect first presenting as a depression in a teenager |
| title_short | Case report: A late-onset cobalamin C defect first presenting as a depression in a teenager |
| title_sort | case report a late onset cobalamin c defect first presenting as a depression in a teenager |
| topic | CblC defect MMACHC depression genotype–phenotype correlation case report |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2022.1012558/full |
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