AI Article Synopsis
- Biotinidase deficiency is a genetic metabolic disorder diagnosed through clinical symptoms and enzyme assays, impacting how the body processes biotin.
- A study involving seven Jordanian families found that children with the deficiency had significantly lower biotinidase levels compared to healthy relatives, revealing six different mutations through DNA sequencing.
- One of these mutations was new and potentially common in the Jordanian population, highlighting the importance of genetic counseling and future prevention measures for affected families.
Article Abstract
Biotinidase deficiency is an autosomal recessive metabolic disorder whose diagnosis currently depends on clinical symptoms and a biotinidase enzyme assay. This study aimed to investigate the mutational status and enzymatic activity of biotinidase deficiency in seven unrelated Jordanian families including 10 patients and 17 healthy family members. Amplified DNA was analyzed by the automated Sanger sequencing method, and the enzymatic assay was performed using a colorimetric assessment. Biotinidase level was significantly lower ( < 0.001) in children compare to their non-affected family members. Genetic sequencing revealed six different mutations in Jordanian patients. One mutation was novel and located in exon 4, which could be a prevalent mutation for biotinidase deficiency in the Jordanian population. Identification of these common mutations and combing the enzymatic activity with genotypic data will help clinicians with regard to better genetic counseling and management through implementing prevention programs in the future.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7151559 | PMC |
| http://dx.doi.org/10.3390/jpm10010004 | DOI Listing |
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