Biotinidase Deficiency in Children: Clinical Outcomes and Neuroimaging Correlations

Area of Science:

• Biochemistry
• Genetics
• Pediatric Neurology

Background:

• Biotinidase Deficiency (BTD) is an inherited metabolic disorder affecting biotin metabolism.
• Mutations in the BTD gene cause BTD, leading to severe neurological problems like seizures and developmental delays.
• Early detection and treatment are critical for managing BTD and improving patient prognosis.

Purpose of the Study:

• To investigate clinical outcomes and neuroimaging findings in pediatric BTD patients.
• To emphasize the importance of early detection and multidisciplinary management for BTD.
• To highlight the correlation between early diagnosis and treatment with patient outcomes.

Main Methods:

• Retrospective review of medical records for five pediatric patients diagnosed with BTD over seven years.
• Diagnosis confirmed by clinical, radiological, and genetic criteria, including brain MRI and BTD gene mutation analysis.
• Assessment of clinical symptoms, MRI findings, and response to Biotin therapy.

Main Results:

• All patients presented with seizures and developmental delays characteristic of BTD.
• Brain MRIs showed specific abnormalities in the subcortical white matter (T2/T1 signal changes).
• Biotin treatment resolved seizures in all patients; however, sensorineural hearing loss occurred in three, with early treatment correlating to better outcomes.

Conclusions:

• A multidisciplinary approach involving genetics, clinical assessment, and neuroimaging is essential for BTD management.
• Newborn screening for BTD is vital for early diagnosis and improved long-term outcomes in affected children.
• Further research should expand screening programs and investigate long-term treatment effects in BTD.