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6. Thiamine-Responsive MSUD

In 1971, doctors in Montreal Children's Hospital gave a female infant with elevated branched-chain amino acids 10 milligrams of thiamine. Her BCAA plasma levels returned to normal. That was the first observed case of thiamine-responsive MSUD. Thiamine or vitamin B1 helps in amino acid metabolism, and this less severe subtype responds well to large dosages of the vitamin. Between 10 and 100 milligrams improve enzyme action, compared to a daily requirement of just 1.1 milligrams for healthy people.

thiamine Maple syrup urine disease Bet_Noire / Getty Images

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