Biotinidase Enzyme Deficiency: Case Report
March 2023
in “
Mağallaẗ wāsit li-l-ʿulūm wa-al-ṭibb
”
New to Biotin? There is a guide in the encyclopedia. Read the guide → Studysummary This case report details a family in Iraq with biotin deficiency, highlighting improved outcomes in surviving children following diagnosis and lifelong biotin supplementation.
Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
A rare case of biotin deficiency was reported in a family from Wasit Province, involving seven children, three of whom died before diagnosis. Symptoms included ataxia, hypotonia, developmental delay, conjunctivitis, skin rash, dermatitis, alopecia, hearing difficulty, breathing problems, and recurrent chest infections. Diagnosis was confirmed through a therapeutic trial with vitamin replacement and a biotinidase enzyme assay conducted in France. The surviving children are now doing well on lifelong treatment with activated biotin.
