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Case Reports
. 2019 Dec 19:22:100548.
doi: 10.1016/j.ymgmr.2019.100548. eCollection 2020 Mar.

Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population

M Mardhiah  1 , Nor Azimah Abdul Azize  2 , Yusnita Yakob  2 , O Affandi  3 , Ngu Lock Hock  4 , M R Rowani  5 , Anasufiza Habib  1
Affiliations
Case Reports

Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population

M Mardhiah et al. Mol Genet Metab Rep. .

Abstract

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.

Keywords: Acylcarnitine; Biotin; Biotinidase deficiency; Mutation; Newborn screening.

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Conflict of interest statement

The authors declare no conflict of interest.

References

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