Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India

Singh, Ankur; Lomash, Avinash; Pandey, SS; Kapoor, Seema

doi:10.7860/jcdr/2015/12958.6941

Cited by 10 publications

(9 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Cutaneous manifestations including rash and alopecia were less commonly seen in our cohort (one of 10 and four of 10, respectively) consistent with previously published data on alopecia in Chinese patients [13]. In contrast, alopecia was found to be a common phenotype in Iranian and Indian patients (eight of 16 and nine of 10, respectively) [14,15]. Dermatological and neurological symptoms associated with the disease varied among the patients, and this could be due to the differences in the age of diagnosis and the age at biotin administration.…”

Section: Discussionsupporting

confidence: 91%

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

AL-Eitan

Alqa'qa'

Amayreh

et al. 2020

JPM

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionsupporting

confidence: 91%

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

AL-Eitan

Alqa'qa'

Amayreh

et al. 2020

JPM

View full text Add to dashboard Cite

show abstract

“…Interestingly, cutaneous manifestations including skin eczema, alopecia, and recurrent fungal infection were less commonly seen compared with cases in the literature. In previous cohorts from Iran and India, alopecia was the common manifestation (8 of 16 and 9 of 10, respectively) [22, 23]. The first two patients had serum biotinidase activity < 10% of the control mean (classified as profound BTD), their mutations, c.460-1G > A/c.1382 T > C, though novel, must be severe.…”

Section: Discussionmentioning

confidence: 92%

Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population

Hsu

Chien

Hwu

et al. 2019

Orphanet J Rare Dis

View full text Add to dashboard Cite

Biotinidase deficiency is an autosomal recessive disorder that affects the endogenous recycling and release of biotin from dietary protein. This disease was thought to be rare in East Asia. In this report, we delineate the phenotype of biotinidase deficiency in our cohort. The genotypes and phenotypes of patients diagnosed with biotinidase deficiency from a medical center were reviewed. The clinical manifestations, laboratory findings, and molecular test results were retrospectively analyzed. A total of 6 patients were evaluated. Three patients (50%) were diagnosed because of a clinical illness, and the other three (50%) were identified by newborn screening. In all patients, the molecular results confirmed the BTD mutation. The three patients with clinical manifestations had an onset of seizure at the age of 2 to 3 months. Two patients had respiratory problems (one with apnea under bilevel positive airway pressure (BiPAP) therapy at night, and the other with laryngomalacia). Hearing loss and eye problems were found in one patient. Interestingly, cutaneous manifestations including skin eczema, alopecia, and recurrent fungal infection were less commonly seen compared to cases in the literature. None of the patients identified by the newborn screening program developed symptoms. Our findings highlight differences in the genotype and phenotype compared with those in Western countries. Patients with biotinidase deficiency benefit from newborn screening programs for early detection and management.

show abstract

“…6 Enzymatic activity (Profound < 10%, partial 10 -30%) determines the age of presentation and clinical spectrum. 7 Newborn screening (NBS) for BTD is an effective tool for early detection which is already adopted by various high prevalent counties like Israel. 8…”

Section: Discussionmentioning

confidence: 99%

Biotinidase Deficiency, a Rare but Treatable Inborn Error of Metabolism

Rup

Dash

Behera

et al. 2021

J. Nepal Paedtr. Soc.

View full text Add to dashboard Cite

Biotinidase deficiency (BTD) is a rare inherited metabolic disorder with predominant dermatogical and neurological manifestations, which if untreated leads to severe neurological sequelae. Early diagnosis and prompt treatment with biotin prevents further progression of neurological symptoms and resolution of cutaneous features. We report an interesting case of four and half year male child presenting with seizures, developmental delay with non resolving extensive skin lesions and alopecia, diagnosed as BTD and successfully treated.

show abstract

Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India

Cited by 10 publications

References 16 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

Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population

Biotinidase Deficiency, a Rare but Treatable Inborn Error of Metabolism

Contact Info

Product

Resources

About