Pyruvate carboxylase
A rare autosomal recessive inherited metabolic disorder caused by mutations in the PC gene. It results in the accumulation of lactic acid and other toxic substances in the blood. Signs and symptoms appear early in life and include failure to thrive, mental and growth retardation, motor disturbances, seizures, and lactic acidosis.
Disease Alternative Name
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Shri M P Shah Medical College Jamnagar
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Dr.Pinnamaneni Siddhartha Institute of Medical Sciences and Research Foundation
M.B.B.S Student
Dr. Pinnamaneni Siddhartha Institute of Medical Sciences and Research Foundation
M.B.B.S
Super Specialist in Reproductive Endocrinology
LLRM
Senior Resident
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