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2 demonstrated a deficiency in branched-chain keto-acid decarboxylase in leucocytes. This enzyme defect results in the accumulation of branched-chain keto- and amino-acids in the plasma and tissues of these patients
If MSUD is not treated, what problems occur?
There are a number of different forms of MSUD. The most common form, "classic MSUD", can be life-threatening and must be treated promptly to prevent serious health problems. Other forms are less severe. These milder forms are less common. This fact sheet contains information on classic MSUD.
Classic MSUD
Symptoms start as soon as a baby is fed protein, usually shortly after birth...
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