Related Experiment Video

Updated: Jun 23, 2025

Minimally Invasive Murine Laryngoscopy for Close-Up Imaging of Laryngeal Motion During Breathing and Swallowing
07:22

Minimally Invasive Murine Laryngoscopy for Close-Up Imaging of Laryngeal Motion During Breathing and Swallowing

Published on: December 1, 2023

478

Laryngeal stridor in children caused by reversible metabolic disease

Farah Salman Alnemari1, Hussain Alsheef2, Zohour Awadh Almalki1

  • 1College of Medicine and Surgery, Taif University, Taif, Saudi Arabia.

BMJ Case Reports
|June 24, 2024
PubMed

Insights

Partial biotinidase deficiency, a disorder affecting biotin recycling, can present with rare symptoms like inspiratory stridor. Early diagnosis and biotin treatment are crucial for reversing symptoms in affected children.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Partial biotinidase deficiency is an inherited metabolic disorder.
  • It impairs the body's ability to recycle biotin, a vital vitamin.
  • Untreated, it can lead to severe neurological and developmental issues.

Keywords:
Developmental paediatricsEar, nose and throat/otolaryngologyMetabolic disordersPaediatricsVitamins and supplements

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