ArticleJournal of clinical and diagnostic research : JCDR2015
Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India.
Article in Journal of clinical and diagnostic research : JCDR, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.
- Status of Newborn Screening and Inborn Errors of Metabolism in India.Indian journal of pediatrics · 2018Pooled it
- Biallelic loss-of-function variations in BTD cause profound biotinidase deficiency in an Indian patient.Molecular biology reports · 2024Article
- A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.Journal of pediatric genetics · 2023Review
- Biotinidase Deficiency Presenting as Recurrent Laryngeal Stridor.Indian journal of pediatrics · 2021Article
- Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency.Journal of personalized medicine · 2020Article
- Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population.Orphanet journal of rare diseases · 2019Article
- Guiding Antiepileptic Therapy in a Pediatric Patient with Severe Meningoencephalitis and Decompressive Craniectomy with the Use of Amplitude-Integrated Electroencephalography.Journal of pediatric intensive care · 2017Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionBiotinidase deficiency is an inherited metabolic disorder with estimated birth incidence of 1 in 61,000 for profound and partial deficiency. Estimated incidence of profound and partial biotinidase deficiency is 1 in 1, 37,000 and 1 in 1, 10,000 respectively. The carrier frequency in general population is 1 in 120. We attempt to study clinical, biochemical and outcome from 10 Biotinidase deficient patients. MATERIALS AND
methodsA retrospective case record study was conducted to record Clinical, biochemical and outcome profile from genetic records. Biotinidase level was measured using spectrophotometric method.
resultsStudy group comprised of 8 males and 2 females with median age of presentation 6 (2-45.75) months. Median (interquartile range) Biotinidase level in study group 0.3 (0.08-1.5) nmol/ml/min. Study group was further divided in to early onset group (< 12 months, n-6) and late onset group (> 12 months, n-4). Seizure, alopecia and hearing loss were predominant phenotypes in study group. The other rare presentations were: hypotonia, ataxia, skin rash, seborrhoea. The most common seizure type was focal seizure. Control of seizure activity was important immediate outcome measured in study group. Median duration (interquartile range) of seizure control in early onset group was 3 (2-4)days against 13.5 (12.25-14.75) days in late onset group.
conclusionThis study highlights the need of early diagnosis for favourable outcome for a potentially treatable inherited metabolic disorder.
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