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
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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
Trending Cases
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85 year female with fall on out stretched hand difficulty in movements of right forearm *Chief Complaints* Pain swelling deformity in right forearm *History* Fall on out stretched hand *Vitals* All stable *Physical Examination* Normal *Investigations* X-ray attached *Diagnosis* Both bone Foream fracture *Management* ?
Dr. Yashavardhan T M0 Like7 Answers - Login to View the image
M.18yrs. Injury chest 2days.
Dr. Syam Sundar Patro1 Like7 Answers - Login to View the image
Diagnosis please. HSG.
Dr. Syam Sundar Patro0 Like6 Answers - Login to View the image
Diagnosis please.
Dr. Syam Sundar Patro0 Like5 Answers Injury of toes with bleeding *Chief Complaints* Left toes injury due to heavy metal fallen on. Bleeding with 3/4 of part got detached from position *History* No *Vitals* Normal *Physical Examination* No *Management* TT given Nailed was excised Dressing done
Dr. Lalikant Yadav1 Like5 Answers
252 Views
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