ArticleJournal of inherited metabolic disease2009
Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency.
Article in Journal of inherited metabolic disease, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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12 citing papers in PubMed, 18 citations in OpenAlex.
- Ontology-driven generation of parameters for health technology assessment models: a prompt engineering study.International journal of technology assessment in health care · 2026Article
- Clinical and genetic analysis of four Chinese patients with holocarboxylase synthetase deficiency and metabolic acidosis.Orphanet journal of rare diseases · 2025Article
- A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.Journal of pediatric genetics · 2023Review
- Article
- Expert consensus on screening, diagnosis and treatment of multiple carboxylase deficiency.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2022Article
- Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient.Molecular genetics & genomic medicine · 2021Article
- Case report of holocarboxylase synthetase deficiency (late-onset) in 2 Chinese patients.Medicine · 2020Article
- Biotinidase Deficiency: Prevalence, Impact And Management Strategies.Pediatric health, medicine and therapeutics · 2020Review
- Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population.Orphanet journal of rare diseases · 2019Article
- Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.PloS one · 2017Article
- Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India.Journal of clinical and diagnostic research : JCDR · 2015Article
- Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.European journal of pediatrics · 2015Article
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9 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
objectiveTo report the clinical course and explore the gene mutation spectrum of four Chinese children with biotinidase deficiency.
methodsFour Chinese patients aged 4 months to 8 years were referred to this study. Tandem mass spectrometry, gas chromatography-mass spectrometry and the determination of biotinidase activities were performed for selective screening of biotinidase deficiency. Four patients with biotinidase deficiency were diagnosed, treated with biotin and followed.
results(1) Four patients with biotinidase deficiency were diagnosed by characteristic metabolites, such as elevated blood levels of 3-hydroxyisovalerylcarnitine (6.22 +/- 3.1 mumol/L), elevated 3-methylcrontonylglycine, methylcitrate and 3-hydroxypropionate in urine and very low biotinidase activities. (2) These patients have been treated with biotin for 1-8 years; two of them still have mental retardation, and two have irreversible hearing or vision disability. (3) In the four patients, six different mutations in the biotinidase gene were identified: c.98G:del7ins3, c.1369G>A (p. V457M), c.1384delA, c.1493_1494insT, c.1284C>A (p.Y428X) and c.1157G>A (p.W386X). The latter four mutations are novel variations. Seven out of eight mutations are located on exon 4 of the biotinidase gene.
conclusionsEarly recognition of biotinidase deficiency is crucial to avoid permanent damage. Determination of biotinidase activity should be included in neonatal screening in China. Exon 4 may be a hot-spot for biotinidase gene mutations in Chinese patients. Four novel gene variations may be disease-causing mutations and should be confirmed by expression studies.
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