Clinical, biochemical and genotypical characteristics in biotinidase deficiency
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Abdurrahman Akgun
,
Askin Sen
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.
Acknowledgements
We would like to acknowledge the contribution of the management and staff of the University of Firat Hospital.
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Research funding: None declared.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interest: Authors state no conflict of interest.
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Informed consent: Not applicable.
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Ethical approval: This study was approved by the Local Ethics Committee of the Firat University School of medicine (protocol: E-97132852-050.01.04-13964, 11/02/2021).
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© 2021 Walter de Gruyter GmbH, Berlin/Boston
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Articles in the same Issue
- Frontmatter
- Review Article
- An endocrine perspective on menstrual suppression for adolescents: achieving good suppression while optimizing bone health
- Original Articles
- Anthropometric, metabolic, and reproductive outcomes of patients with central precocious puberty treated with leuprorelin acetate 3-month depot (11.25 mg)
- Evaluation of the resilience of the girls with central precocious puberty treated with gonadotropin-releasing hormone analog
- The effect of GnRH stimulation on AMH regulation in central precocious puberty and isolated premature thelarche
- Association of the apoptotic marker APO1/Fas with children’s predisposing factors for metabolic syndrome and with mean platelet volume
- Serum adiponectin, body adiposity and metabolic parameters in obese Egyptian children with Down syndrome
- Urinary iodine and thyroglobulin are useful markers in infants suspected of congenital hypothyroidism based on newborn screening
- Comparison of plasmapheresis with medical apheresis in terms of efficacy and cost in the acute treatment of hypertriglyceridemia in children with lipoprotein lipase deficiency
- Clinical, biochemical and genotypical characteristics in biotinidase deficiency
- High uric acid levels in overweight and obese children and their relationship with cardiometabolic risk factors: what is missing in this puzzle?
- Optimizing pediatric histrelin implantation to improve success rates in clinic without sedation
- Determinants of ultra-processed food consumption in Brazilian children and adolescents with type 1 diabetes mellitus: a cross-sectional study
- The prevalence, immune profile, and clinical characteristics of children with celiac disease and type 1 diabetes mellitus in the state of Qatar
- Case Reports
- A rare and preventable aetiology of neurodevelopmental delay and epilepsy: familial glucocorticoid deficiency
- Giant plurihormonal pituitary adenoma in a child – case study
- The usefulness of copeptin for the diagnosis of nephrogenic diabetes insipidus in infancy: a case report
- A novel synonymous homozygous variant [c.2538G>A (p.Thr846Thr)] in TRPM6 in a patient with hypomagnesemia with secondary hypocalcemia
- Idiopathic juvenile osteoporosis in a child: a four-year follow-up with review of literature
