Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population.
| Autor: | Mardhiah M; Biochemistry Unit, Specialised Diagnostic Centre, Institute for Medical Research, Kuala Lumpur, Malaysia., Azize NAA; Molecular Diagnostic Unit, Specialised Diagnostic Centre, Institute for Medical Research, Kuala Lumpur, Malaysia., Yakob Y; Molecular Diagnostic Unit, Specialised Diagnostic Centre, Institute for Medical Research, Kuala Lumpur, Malaysia., Affandi O; Inborn Errors of Metabolism & Genetics Unit, Nutrition Metabolism & Cardiovascular Research Centre, Institute for Medical Research, National Institute of Health, Setia Alam, Malaysia., Hock NL; Department of Paediatric, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia., Rowani MR; Department of Paediatric, Hospital Universiti Sains Malaysia (HUSM), Malaysia., Habib A; Biochemistry Unit, Specialised Diagnostic Centre, Institute for Medical Research, Kuala Lumpur, Malaysia. |
|---|---|
| Jazyk: | angličtina |
| Zdroj: | Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2019 Dec 19; Vol. 22, pp. 100548. Date of Electronic Publication: 2019 Dec 19 (Print Publication: 2020). |
| DOI: | 10.1016/j.ymgmr.2019.100548 |
| Abstrakt: | Introduction: Biotinidase deficiency (BD) is an autosomal recessively inherited disorder characterized by developmental delay, seizures, hypotonia, ataxia, skin rash/eczema, alopecia, conjunctivitis/visual problem/optic atrophy and metabolic acidosis. Delayed diagnosis may lead to irreversible neurological damage. Methodology: Clinically suspected patients were screened for biotinidase level by a fluorometry method. Profound BD patients were confirmed by mutation analysis of BTD gene. Results: 9 patients had biotinidase activity of less than 77 U. 3 patients (33%) had profound BD while 6 patients (67%) had partial BD. Compound heterozygous mutations were detected at c.98_104delinsTCC p.(Cys33Phefs*36) in Exon 2 and c.833T>C p.(Leu278Pro) in Exon 4 in two patients and a homozygous mutation at c.98_104delinsTCC p.(Cys33Phefs*36) in Exon 2 in another patient. Conclusion: Correct diagnosis lead to early treatment and accurate management of patient. Biochemical screening of BD in symptomatic child is prerequisite to determine enzyme status however molecular confirmation is vital in differentiating individuals with profound biotinidase deficiency from partial biotinidase deficiency and also individuals' carriers. Competing Interests: The authors declare no conflict of interest. (© 2019 The Authors.) |
| Databáze: | MEDLINE |
| Externí odkaz: |
|