[Clinical and genetic features of children with 3-methylcrotonyl-coenzyme A carboxylase deficiency: an analysis of six cases].
This study identifies two new mutations, c.269A>G(p.D90G) and c.1609T>A(p.F537I), thereby expanding the mutation spectrum of the <i>MCCC1</i> gene. A combination of blood amino acid and acylcarnitine profiles, urine organic acid analysis, and genetic testing can facilitate early diagnosis and treatment of MCCD, and provide essential data for genetic counseling.
Authors
- Y. Guo
- Liming Zhang (ORCID: https://orcid.org/0000-0002-4657-3870)
- Junmei Yang (ORCID: https://orcid.org/0000-0002-0098-6127)
- Yongxing Chen (ORCID: https://orcid.org/0009-0005-0056-1136)
- Hongqi Sun
- Shengnan Wu (ORCID: https://orcid.org/0000-0002-2245-2273)
- Jianwei Yang (ORCID: https://orcid.org/0009-0002-7044-4523)
Institutions
- Zhengzhou Children's Hospital (CN)
Publication Details
- Journal
- PubMed
- Published
- 2024-08-15
- DOI
- https://doi.org/10.7499/j.issn.1008-8830.2404026
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00