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.
So first type is stress induced amenorrhea, second is PCOS,third is ovarian failure and fourth is prolactin induced amenorrhea.
40 Views
, 1 Answer
Prolonged conjugated hyperbilirubinemia in a neonate is termed as neonatal cholestasis
60 Views
, 3 Likes
, 24 Answers
Recent Cases of Galactosemia
Browse recently discussed Galactosemia cases by specialistsTop Cases of Galactosemia
Selected by editors, top cases are known for unique problem or best solutionTop 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

Trending Diseases
Trending Cases
How would you describe the current understanding of autism in Indian population?
Curofy Health Day5 Likes15 AnswersWhich is similimum or constitutional homeopathy remedy for Pt aged 40/m who is suffering from Bipolar mood disorder, Diabetes mellitus 2 Hypothyroidism , for 21 years pt is very emotional and very sad when anyone angry or oppose his work His professional is high and good post He is very restlessness Rapid his work Anxiety about himself and his family members Worry about future and when he will married He is also in angry nature?
Dr. Nirmal Shah2 Likes5 Answers- Login to View the image
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 Kumar4 Likes2 Answers Which of the following approaches have you found effective when treating autistic patients in dental practice?
Dental-Insights2 Likes1 Answer
254 Views
, 5 Likes
, 8 Answers