ArticleMolecular genetics and metabolism reports2020
Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population.
Article in Molecular genetics and metabolism reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 14 citations in OpenAlex.
- Holocarboxylase Synthetase Deficiency: Clinical, Biochemical and Molecular Findings in Five Malaysian Patients Including a Newborn Presenting as Collodion Baby.JIMD reports · 2025Article
- Article
- Improvements in Gut Microbiome Composition Predict the Clinical Efficacy of a Novel Synbiotics Formula in Children with Mild to Moderate Atopic Dermatitis.Microorganisms · 2023Article
- A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.Journal of pediatric genetics · 2023Review
- Early-infantile developmental and epileptic encephalopathy: the aetiologies, phenotypic differences and outcomes-a prospective observational study.Brain communications · 2023Article
- Article
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
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Abstract
introductionBiotinidase 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
results9 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.
conclusionCorrect 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.
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