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 specialistsSo 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
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Top Galactosemia Doctors on Curofy
Top doctors who continously share their opinions on GalactosemiaNational 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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# CCL6 Young female 18yrs. C/O Muscle spasm, Muscle weakness and wasting. Myalgia and arthralgia Aching bone pain at lumbar,pelvis and hips Inv- Bone mineral density 76% Hypocalcaemia.
Dr. Syam Sundar Patro1 Like9 Answers Astra Zeneca vaccine against Covid-19 has the potential to cause Thrombosis with Thrombocytopenia Syndrome (TTS), a rare side effect associated with blood clotting. TTS causes blood clots & leads to low blood platelet count. Experts say, the adverse effects related to vaccine usually occur within a few weeks (1-6 weeks) after the administration. Hence, people in India who took the vaccine 2 years ago need not worry. What do you think about it?
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M.62yrs. Pain & stiffness neck 1 year.
Dr. Syam Sundar Patro0 Like8 Answers - Login to View the image
This is a case of my brother - A 47-year-old male complains of pain in his right wrist while lifting anything with hand or twisting the wrist even a little bit. Pain occurs occasionally on rest. He also has pain in his both shoulders. Radiographic images of wrist are attached. Can you diagnose the cause? Let me know if you have any query.
Dr. Neelam Chauhan0 Like7 Answers - Login to View the image
Mch.9yrs. Unable for pronation and supination and rotation of left forearm.
Dr. Syam Sundar Patro0 Like6 Answers
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