[The criteria of early detection of biotinidase deficiency-based epilepsy]

Area of Science:

• Biochemistry
• Genetics
• Pediatric Neurology

Background:

• Biotinidase deficiency is an inherited metabolic disorder.
• Infantile epilepsy can be a symptom of biotinidase deficiency.
• Timely diagnosis is critical for managing inherited metabolic diseases.

Observation:

• Presents three cases of infantile epilepsy linked to biotinidase deficiency.
• Diagnostic timelines varied significantly, from 1 day to 4 months.
• Clinical and paraclinical symptoms were analyzed.

Findings:

• Delayed diagnosis can lead to severe patient outcomes.
• Early identification of specific signs is key.
• Prompt diagnosis improves treatment efficacy.

Implications:

• Highlights the importance of recognizing biotinidase deficiency signs in infants with epilepsy.
• Emphasizes the need for increased awareness among healthcare professionals.
• Underscores the potential to prevent irreversible neurological damage and mortality.