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Symptoms and Testing information for DBT Gene Maple Syrup Urine Disease Type 2 Genetic Test

Symptoms and Testing information for DBT Gene Maple Syrup Urine Disease Type 2 Genetic Test

Maple Syrup Urine Disease (MSUD) is a rare but serious inherited condition that affects the body’s ability to process certain amino acids, leading to a buildup of these substances in the body. This condition gets its name from the distinctive sweet odor of affected infants’ urine, reminiscent of maple syrup. Type 2 MSUD, specifically related […]

Symptoms and Testing information for BCKDHB Gene Maple Syrup Urine Disease Type 1b Genetic Test

Symptoms and Testing information for BCKDHB Gene Maple Syrup Urine Disease Type 1b Genetic Test

Maple Syrup Urine Disease (MSUD) Type 1b is a rare but serious inherited condition, characterized by the body’s inability to break down certain parts of proteins known as branched-chain amino acids. This condition is named after the distinctive sweet odor of affected infants’ urine, reminiscent of maple syrup. The disease results from mutations in the […]

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