biotinidase deficiency
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Author(s):  
Kaustubh Mohite ◽  
Karthik Vijay Nair ◽  
Anilkumar Sapare ◽  
Venkatraman Bhat ◽  
Anju Shukla ◽  
...  

2021 ◽  
Vol 14 (10) ◽  
pp. e246167
Author(s):  
Priya Singh ◽  
Rohit Gurnani ◽  
Anil Rawat ◽  
Anit Parihar

Author(s):  
Abdurrahman Akgun ◽  
Askin Sen ◽  
Hasan Onal

Abstract Objectives Hypotonia, lethargy, eczema, alopecia, conjunctivitis, ataxia, hearing loss, optic atrophy, cognitive retardation, and seizures can occur in patients with biotinidase deficiency, and it is inherited as autosomal recessive. The aim of this study was to evaluate the cases followed up with the diagnosis of biotinidase deficiency in our unit, in terms of clinical, biochemical and genetic analyses. Methods A total of 112 cases followed up in our centre with the diagnosis of biotinidase deficiency between August 2018–September 2020 were included in the study. Data were collected retrospectively. Results A total of 112 cases (55.4% male, mean age: 2.2 ± 2.8 years) diagnosed with biotinidase deficiency were evaluated. Diagnoses were made by newborn screening in 90.2% of the cases, by family screening in 4.5%, and by investigating symptoms in 5.4%. The most frequently (27.5%) detected mutations were c.1330G>C (p.D444H)/c.1330G>C (p.D444H) homozygous mutation, followed by (13.0%) c.1330G>C (p.D444H)/c.470G>A (p.R157H) compound heterozygous mutation, and (13.0%) c.470G>A (p.R157H)/c.470G>A (p.R157H) homozygous mutation. Biotinidase enzyme levels were found to be higher in patients with the p.D444H homozygous mutation than patients with other mutations. Biotin treatment was started in all patients with enzyme deficiency. Conclusions Since the treatment is inexpensive and easily available, it is vital to detect this disease before symptom onset, especially findings related to the central nervous system, hearing and vision loss. In patients diagnosed with enzyme deficiency, the diagnosis should be definitively confirmed by genetic analysis.


Author(s):  
Jami Rupa Ramani ◽  
Hima Gopinath ◽  
Prabhakaran Nagendran ◽  
Pratyusha Ganne ◽  
Thirunavukkarasu Arun Babu

2021 ◽  
Vol 8 (7) ◽  
pp. 1290
Author(s):  
Cheruku Rajesh ◽  
N. Shivaramakrishna Babji ◽  
Mohammed Ashraf Mohiddin Siddiq

Early biotinidase deficiency is an inherited form of multiple carboxylase deficiency leading to increased accumulation of biocytin and decreased biotin, predominantly effecting the central nervous system and skin. The symptoms can be reversed by early biotin supplementation.


2021 ◽  
Vol 36 ◽  
pp. 57-59
Author(s):  
Pooja Shashidhar Wali ◽  
Preetham Tauro ◽  
Pavan Hegde ◽  
Habeeb Ullah Khan ◽  
M. D Jaidev

Biotinidase deficiency (BTD) is hereditary autosomal recessive disorder with higher morbidity and mortality if left untreated. We report this case to increase awareness about BTD, presenting with infantile seizures, encephalopathy with high anion gap metabolic acidosis, eczema and to emphasize the importance of early diagnosis in reversal of metabolic acidosis and seizures refractory to multiple anticonvulsants with biotin replacement.


2021 ◽  
Vol 9 ◽  
Author(s):  
Alice Maguolo ◽  
Giulia Rodella ◽  
Alice Dianin ◽  
Irene Monge ◽  
Martina Messina ◽  
...  

Introduction: Biotinidase deficiency (BD) is an autosomal recessive disease causing a defect in the biotin-releasing enzyme. Newborn screening (NBS) allows early diagnosis and treatment, ensuring excellent prognosis. The aim of this study was to describe our experience in the diagnosis, treatment, and follow-up showing key strategies and unsolved questions of the management of BD patients.Methods: We analyzed data of patients identified by the Regional Centre for Newborn Screening of Verona and followed by the Inherited Metabolic Disease Unit of Verona and Neonatal Intensive Care Unit of Bolzano, Italy, from 2014 to 2020.Results: Thirty-seven patients were diagnosed by NBS (five profound and 32 partial BD), with a total incidence of 1:5,996. All were started on biotin at diagnosis and presented no symptoms at follow-up. Analysis of parents and siblings led to identification of five asymptomatic patients with partial BD: one asymptomatic parent and four young siblings. Genetic analysis of the BTD gene identified 17 different genotypes and one mutation not previously known.Discussion: Our data confirm that NBS introduction had a dramatic impact on BD diagnosis, and the incidence has increased significantly compared to other areas. Partial defects are more common than profound and have a distinctive genotype. Partial BD treatment is still controversial even at what dose of biotin and for how long. At the end, BD treatment is very easy and inexpensive and prevents severe neurological damage. Sharing experiences is essential to achieving guidelines for treatment and follow-up and a better genotype–phenotype correlation.


Author(s):  
Sruthi Alanghat ◽  
John Matthai ◽  
Vidhya Marimuthu ◽  
R. Manivasakan ◽  
M. Ramaswamy

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