Archive \ Volume.14 2023 Issue 2

Overview on Pathophysiology, Diagnosis, and Management of Biotinidase Deficiency in Pediatrics

Alaa Saud Alyasi , Faisal Mohammed Alharbi , Ahmad Sughaier Albalawi , Fawaz Khalifah Alanazi , Turki Saleh Alshehri , Badriah Abdulrahman Alsabah

Abstract

A condition that interferes with the biotin cycle is known as biotinidase (BTD) deficiency. Endogenous biotin recycling is hampered, and different carboxylase deficits result depending on the amount of enzyme activity. There are two types of BTD insufficiency, which are determined by the amount of BTD Enzyme present in the serum. Pathogenic BTD gene mutations have been reported globally in a wide range of different ways. BTD deficiency is caused by complete and partial BTD gene mutations. The severe pathogenic disease is caused by profound BTD deficiency. Neuro-cutaneous symptoms are frequently evident in infants with significant deficiencies. Around the world, a significant percentage of neonates suffer from a partial deficiency. Although they are mostly asymptomatic, symptoms can sometimes arise under stressful circumstances. The treatment for symptomatic children or babies with positive screening results is lifelong oral biotin supplementation. The former may experience either a partial or full relief of symptoms. Results of neonatal screening programs confirm that postnatal biotin therapy shields patients with Biotinidase deficiency from symptoms. The article provides an overview of biotinidase deficiency in children, addresses programs for newborn screening for early detection and treatment of BTD-deficient infants, and explains how early treatment and proper patient care are facilitated by accurate diagnosis.


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Vancouver
Alyasi AS, Alharbi FM, Albalawi AS, Alanazi FK, Alshehri TS, Alsabah BA. Overview on Pathophysiology, Diagnosis, and Management of Biotinidase Deficiency in Pediatrics. Arch Pharm Pract. 2023;14(2):99-105. https://doi.org/10.51847/8hPVoMJRdl
APA
Alyasi, A. S., Alharbi, F. M., Albalawi, A. S., Alanazi, F. K., Alshehri, T. S., & Alsabah, B. A. (2023). Overview on Pathophysiology, Diagnosis, and Management of Biotinidase Deficiency in Pediatrics. Archives of Pharmacy Practice, 14(2), 99-105. https://doi.org/10.51847/8hPVoMJRdl

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