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
Trending Cases
- Login to View the image
Diagnosis please. HSG.
Dr. Syam Sundar Patro1 Like7 Answers - Login to View the image
M.18yrs. Injury chest 2days.
Dr. Syam Sundar Patro1 Like7 Answers - Login to View the image
Mch.10yrs. Limping left 6 months.
Dr. Syam Sundar Patro0 Like5 Answers - Login to View the image
M.24yrs. A hard swelling at left high back 5 months. Chest-oblique view.
Dr. Syam Sundar Patro0 Like5 Answers - Login to View the image
M.55yrs. A large painless fungative mass over medial part of right clavicle. 3 months. Waiting for FNAC report.
Dr. Syam Sundar Patro1 Like3 Answers
252 Views
, 5 Likes
, 8 Answers