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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Diagnosis please.
Dr. Syam Sundar Patro0 Like10 Answers NCDs like heart disease, stroke, cancer, diabetes & chronic lung disease continues to be a major public health challenge in India. Chronic diseases like heart disease & cancer not only account for 63% of deaths in India but are expected to cost the country $3.55 trillion in lost economic output between 2012 and 2030. What is the major challenge for Chronic disease management in India?
Doc Insights6 Likes10 Answers- Login to View the image
33 YEAR FEMALE C/O LT. KNEE PAIN & MILD SWELLING from 2 3 months
Wahib Zaidi0 Like5 Answers - Login to View the image
60 Y male having LRTI symptoms, Underwent CT CHEST , now he is recovered with the Standard Rx. But I PICKED CIRRHOTIC LIVER FINDING on CT CHEST meanwhile Patient is ASYMPTOMATIC No C/O CLD yet. I advised to do USG ABDOMEN to check for Findings of DECOMPENSATION. & LFT also appears normal On USG adomen** 1) INCREASED ECHOGENICITY of Liver 2) DILATED PORTAL VEIN I think Radiologist interpretated it as FATTY LIVER GRADE 2, but Dilated portal Vein + increased Echogenicity should be S/O CLD Life style He is NON ALCOHOLIC , NON SMOKER PT INR , HEP B , HEP C Reports are awaited.
Wahib Zaidi1 Like5 Answers - Login to View the image
F.29yrs. Palpitation & DOE 2yrs.
Dr. Syam Sundar Patro0 Like4 Answers
249 Views
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