Galactosemia
An autosomal recessive inherited metabolic disorder caused by mutations in the GALE, GALK1, and GALT genes. It is characterized by deficiency of the enzymes responsible for the metabolism of galactose. Signs and symptoms include intellectual disability, hepatomegaly, hepatic failure, and renal failure.
Recent Cases of Galactosemia
Browse recently discussed Galactosemia cases by specialists
So first type is stress induced amenorrhea, second is PCOS,third is ovarian failure and fourth is prolactin induced amenorrhea.
Top Cases of Galactosemia
Selected by editors, top cases are known for unique problem or best solution60 Views
, 3 Likes
, 24 Answers
Top Galactosemia Doctors on Curofy
Top doctors who continously share their opinions on Galactosemia
National Institute of Medical Science
Md Paediatrics
National Institute of Medical Science
MD pediatrics
Self Emploid(private Clinic)
Morbi
Shri M P Shah Medical College Jamnagar
M B B S
Super Specialist in Reproductive Endocrinology
Sanjay Gandhi Postgraduate Institute of Medical Sciences
Senior Resident
Sanjay Gandhi Postgraduate Institute of Medical Sciences
PDCC Paediatric Gastroenterology & Hepatology
Private Practise
Md
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30 years non diabetic male presented with feet deformities, trophic ulcer and osteomyelitis of the right foot gradually increasing since 3 years. He consulted many doctors but was not diagnosed for 3 years. Health system delay for diagnosis could've been avoided. What a price to pay for a delayed diagnosis! What is your diagnosis? Awareness and knowledge will minimise health system delay. Thank you.
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Tibial aplasia and prosthetic Leg restoration. *Chief Complaints* Due to congenital anomalies she walks with abnormal gait patterns. *History* When she was born 28 years ago with such congenital anomalies. Her parents never thought that their 5th girl child would be the same as others 4 . But she had different problems with tibial aplasia and others 4 having complex syndactyly in both hands. Same as their father having complex syndactyly. *Vitals* Unable to perform activities of daily living. *Physical Examination* Problem with walking and gripping and grasping. *Management* 28 years old girl looking for Prosthetics management for tibial aplasia. Our team takes measurements and casting for Prosthetic Leg restoration. Now she walks comfortably with a new prosthetic Leg.
Dr. Narendra Kumar1 Like2 Answers - Login to View the image
DenTest Quiz Winners of June round 1. Congratulations to all the top performers. Thank you all for your participation. Keep participating!
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