Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss

Area of Science:

• Biochemistry
• Genetics
• Pediatric Neurology

Background:

• Biotinidase deficiency is an inherited metabolic disorder.
• Symptomatic children often present with myelopathy (spinal cord dysfunction) and vision loss.
• This presentation can be misattributed to central nervous system dysfunction rather than spinal cord issues.

Purpose of the Study:

• To highlight myelopathy as a key feature of biotinidase deficiency, even in younger children.
• To emphasize the importance of including biotinidase deficiency in the differential diagnosis for pediatric myelopathy.
• To advocate for universal newborn screening for biotinidase deficiency.

Main Methods:

• Clinical case review and analysis of neurological presentations.
• Review of diagnostic timelines and treatment outcomes.
• Literature synthesis on the spectrum of biotinidase deficiency manifestations.

Main Results:

• Myelopathy, with or without vision loss, is a significant clinical manifestation of biotinidase deficiency.
• Delayed diagnosis is common, leading to prolonged periods before appropriate treatment.
• Prompt diagnosis and intervention significantly improve the chances of complete neurological recovery.

Conclusions:

• Biotinidase deficiency should be considered in the differential diagnosis of children presenting with myelopathy.
• Universal newborn screening for biotinidase deficiency is essential to prevent delayed diagnosis and irreversible neurological damage.
• Early identification and treatment can avert permanent neurological deficits and improve patient outcomes.