| Answer to PhotoQuiz 59 |
| Biotinidase deficiency (OMIM #253260) |
| Biotinidase deficiency is an autosomal recessive inborn error of metabolism. Profound biotinidase deficiency is characterized by cutaneous manifestations such as alopecia, skin rash and candidiasis, and neurological abnormalities such as seizures, ataxia, developmental delay, muscle tone abnormalities, and visual and hearing deficits. Individuals with partial biotinidase deficiency may have milder manifestations such as skin rash, hair loss and hypotonia. Biotinidase deficiency is caused by biallelic variants in the BTD gene (*609019). Symptoms can be effectively controlled with daily lifelong high dose biotin supplementation. Presymptomatic detection through newborn screening and early initiation of biotin therapy can prevent disease manifestations. |
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| Correct responses were given by: |
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1. Dr Haseena Sait, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh 2. Dr Sarah Bailur, Rainbow Children's Hospital, Hyderabad, Telangana 3. Dr Suvarna Magar, MGM Medical College, Aurangabad, Maharashtra 4. Dr Ravneet Kaur, Motherhood Chaitanya Hospital, Chandigarh 5. Dr Meenakshi Lallar, Prime Imaging and Prenatal Diagnostics, Chandigarh 6. Dr Sangeeta Khatter, Jindal IVF Hospital, Chandigarh 7. Dr Komal Uppal, Lok Nayak Hospital, New Delhi 8. Dr Surendra Pratap, PMHS, Prayagraj, Uttar Pradesh 9. Dr Diksha Shirodkar, Bristol Royal Hospital for Children, United Kingdom 10. Dr Nishant Rathod, NeuroWorld Clinic, Rajkot, Gujarat 11. Dr Karthikeyan PS, Masonic Medical Centre for Children, Coimbatore, Tamil Nadu 12. Dr Rajeshwari N, Dr Kamakshi Memorial Hospital, Chennai, Tamil Nadu 13. Dr G Aruna, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka 14. Dr Janmeeta Singh, Sir Ganga Ram Hospital, New Delhi 15. Dr Swasti Pal, Sir Ganga Ram Hospital, New Delhi 16. Dr Shifali Gupta, Postgraduate Institute of Medical Education & Research, Chandigarh 17. Dr Surya G Krishnan, Child Central Clinic, Bengaluru, Karnataka 18. Dr Ami Shah, B J Wadia Hospital for Children, Mumbai, Maharashtra 19. Dr Preveen, Dhanalakshmi Srinivasan Medical College, Tiruchirappalli, Tamil Nadu 20. Dr Mallikarjun Patil, Aster Hospital, Bengaluru, Karnataka 21. Dr Neha Agrawal, Dr Ram Manohar Lohia Institute of Medical Sciences, Lucknow, Uttar Pradesh 22. Dr Ashka Prajapati, Ahmedabad, Gujarat 23. Dr Anand Kumar Gupta, Indira Gandhi Institute of Medical Sciences, Patna, Bihar 24. Dr Kruti Varshney, Centre for Human Genetics, Bengaluru, Karnataka 25. Dr Tripty Singh, All India Institute of Medical Sciences, Raipur, Chhattisgarh 26. Dr Bhawana Aggarwal, All India Institute of Medical Sciences, New Delhi 27. Dr Mansi K Shah, Lokmanya Tilak Municipal General Hospital and Medical College, Sion, Mumbai, Maharashtra 28. Dr Pooja Motwani, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh 29. Dr Sheeba Farooqui, Kasturba Medical College, Manipal, Karnataka 30. Dr Kiran, Alappuzha, Kerala |