Carriers of MSUD can be identified by checking their disease-causing mutations. Identification of the disease-causing mutation is vital for the prenatal diagnosis of the unborn that are at a higher risk. Individuals with this condition exhibit severe metabolic intoxication.
The well-known types of this condition include the classical MSUD, intermediate MSUD, intermittent and thiamine responsive MSUD. According to the findings, classic MSUD is characterized by ketonuria and high levels of branched-chain amino acid. A similar trend is exhibited by plasma also-isoleucine and the branched-chain ketoacids. The urine also tests positive for DNPH. This level of the condition usually starts at the neonatal stage. The intermediate type of the condition is also characterized by the same biochemical signs exhibited by the classical type of MSUD. This type is however less severe than the classical type.
The intermittent type of the MSUD is, however, characterized by normal levels of branched-chain amino acid when the individual is well. When the individual is unwell, biochemical signs exhibited are similar to those of the classic type. The thiamine responsive type of this condition is characterized by leucine tolerance, and
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