Outcomes of oral biotin treatment in patients with biotinidase deficiency — Twenty years follow-up

Szymańska, Edyta; Średzińska, Małgorzata; Ługowska, Agnieszka; Pajdowska, Magdalena; Rokicki, Dariusz; Tylki‐Szymańska, Anna

doi:10.1016/j.ymgmr.2015.09.004

Cited by 13 publications

(5 citation statements)

References 12 publications

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“…This is consistent with Wolf et al's study conducted in the United States of America (USA), whereas one patient was found to have a c.1361A>C (p.Tyr454Cys) mutation with a complete absence of the biotinidase activity (0.0 nmol/min/mL) [22]. The last detected mutation in our cohort was c.235C>T (p.Arg79Cys) in exon 2, which is common in different populations from South China [23], Iran [24], Poland [25], Turkey [17,26,27], United States [22], and Sweden [28]. The Iranian, Turkish, and American children were found to have an enzyme activity of 0.11, 0.13, and 0.0 nmol/min/mL, respectively [22,24,26].…”

Section: Discussionmentioning

confidence: 88%

Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency

AL-Eitan

Alqa'qa'

Amayreh

et al. 2020

JPM

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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 (p < 0.001) in BTD 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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Section: Discussionmentioning

confidence: 88%

Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency

AL-Eitan

Alqa'qa'

Amayreh

et al. 2020

JPM

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“…While biotin treatment is demonstrably effective and safe, there remains some uncertainty regarding the optimal dosage for patients with partial BD. Studies suggest that lower doses, ranging from 5 to 10 milligrams per day, might be su cient for managing partial BD in children [12,38]. Early intervention is critical for achieving positive outcomes.…”

Section: Discussionmentioning

confidence: 99%

“…Fortunately, oral biotin supplementation offers a wellestablished and effective therapy for BD. However, certain complications, such as hearing loss, remain irreversible once established [11,12].…”

Section: Introductionmentioning

confidence: 99%

Biallelic loss-of-function variations in BTD cause profound biotinidase deficiency in an Indian patient

Kannan,

Jayaseelan,

Arumugam

et al. 2024

Preprint

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Background Biotinidase deficiency (BD) is a rare, autosomal recessive metabolic disorder characterized by neurocutaneous symptoms. This study investigates a case of profound BD in an Indian patient and the underlying genetic basis. Methods A 10-month-old male presenting with seizures, hypotonia, ataxia, visual impairments, and developmental delay underwent biochemical and genetic analysis. Biotinidase activity was measured using an ELISA kit. Sanger sequencing of the BTD gene was performed to identify mutations. In silico analysis was employed to assess the potential impact of the identified variants. Results The patient exhibited profound biotinidase deficiency. Biallelic loss-of-function variations (c.903G > A and c.946C > T) in the BTD gene were identified, leading to premature stop codons and truncated, non-functional protein fragments. In silico analysis supported the functional significance of these variations, demonstrating their location within a critical domain essential for enzyme activity. Conclusion This case expands our knowledge of BD genetic diversity and underscores the critical role of early diagnosis and newborn screening programs in managing this treatable condition.

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“…There were three out of four patients affected by this L215F mutation, and the patients had symptoms such as hearing loss or vision problems. 59 In Italy, a patient showed a new variant of T492I with a combination of D444H, and the mother didn't have a similar mutation in her genomic DNA, which suggests the mutation is due to a de novo origin of maternal germline mosaicism. 60 The prevalence of BTD deficiency in the European population is estimated at one in 61,000.…”

Section: Mutations In Other Populationsmentioning

confidence: 99%

“…In addition, asymptomatic BTD patients take 5 mg of oral biotin daily. A study of 22 Polish pediatric patients was screened for biotin follow-up for 20 years by Szymanska et al 59 They routinely monitored the patient's urine organic acid (3-hydroxyisovaleric acid) by gas chromatography mass spectrometry. Once a year, ophthalmological, audiological, and neurological evaluations were also conducted.…”

Section: Efficacy Of Biotin Treatmentmentioning

confidence: 99%

A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype–Phenotype Analysis

et al. 2022

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Biotinidase (BTD) deficiency is a rare autosomal recessive metabolic disorder caused by insufficient biotin metabolism, where it cannot recycle the vitamin biotin. When this deficiency is not treated with supplements, it can lead to severe neurological conditions. Approximately 1 in 60,000 newborns are affected by BTD deficiency. The BTD deficiency causes late-onset biotin-responsive multiple carboxylase deficiency, which leads to acidosis or lactic acidosis, hypoglycemia, and abnormal catabolism. BTD deficiency is of two types based on the amount of BTD Enzyme present in the serum. A wide range of pathogenic mutations in the BTD gene are reported worldwide. Mutations in the BTD gene lead to profound and partial BTD deficiency. Profound BTD deficiency results in a severe pathogenic condition. A high frequency of newborns are affected with the partial deficiency worldwide. They are mostly asymptomatic, but symptoms may appear during stressful conditions such as fasting or viral infections. Several pathogenic mutations are significantly associated with neurological, ophthalmological, and skin problems along with several other clinical features. This review discusses the BTD gene mutation in multiple populations detected with phenotypic features. The molecular-based biomarker screening is necessary for the disease during pregnancy, as it could be helpful for the early identification of BTD deficiency, providing a better treatment strategy. Moreover, implementing newborn screening for the BTD deficiency helps patients prevent several diseases.

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Outcomes of oral biotin treatment in patients with biotinidase deficiency — Twenty years follow-up

Cited by 13 publications

References 12 publications

Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency

Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency

Biallelic loss-of-function variations in BTD cause profound biotinidase deficiency in an Indian patient

A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype–Phenotype Analysis

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