Biotinidase deficiency
A genetic disorder caused by mutations in the BTD gene. It is characterized by reduced or absent activity of the enzyme biotinidase which is responsible for the recycling of the vitamin biotin. Signs and symptoms appear in childhood and include seizures, hypotonia and developmental delays. If left untreated, it leads to vision and hearing loss, infections, alopecia and ataxia.
Top Biotinidase deficiency Doctors on Curofy
Top doctors who continously share their opinions on Biotinidase deficiencyLLRM
Senior Resident
Parmarth Homeopathic Ausdhalay
M/O Incherge
Homeopathy University Jaipur
DHMS
Bangalore Medical College and Research Institute
M B B S
The Health City Hospital
Intensivist
Maharashtra University of Health Sciences Nashik
bhms
Pgimer
M.D (Pediatrics)
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Several distinct degenerative processes affect the articulations of the vertebral column; each is associated with characteristic radiographic and pathologic abnormalities, and many are accompanied by significant clinical manifestations. Learn & update your basic radiological approach for “Spinal Degenerative Disease” its interpretation knowledge & patient care approach with this post.
Radiology Essential7 Likes7 Answers - Login to View the image
Fch.14 yrs. Deformity left wrist since birth. Restricted movement & pain after activity Lt.wrist. 2years.
Dr. Syam Sundar Patro1 Like6 Answers - Login to View the image
History of blunt injury to left hand complaint of pain over distal wrist *Chief Complaints* Pain over distal aspect of the wrist and forearm *History* Blunt injury to wrist *Vitals* Stable *Physical Examination* Tender presence over distal 1/3 ulna Pronation and supination painful *Investigations* X-ray attached *Diagnosis* ? *Management* ?
Dr. Yashavardhan T M0 Like6 Answers - Login to View the image
How to manage this type of fracture in 7 year kid *Chief Complaints* 7 year female kid complaining of Difficulty in walking n weight bearing on left lower limb *History* 7 year kid Sustained injury following sudden collapse of bike over the left lower limb *Vitals* All stable left dorsalis pedias felt vital stable *Physical Examination* Left lower limb is shortened extremely externally rotated tense tender at mid thigh of left lower limb *Investigations* X-ray tagged *Diagnosis* ? *Management* ?
Dr. Yashavardhan T M0 Like5 Answers - Login to View the image
Quiz posted on June Round 1, 7th June 2024 Congratulations to all the top performers of HomeoQz. Thanks all for your participation.
Curofy Ayush3 Likes4 Answers