Posted: May 22nd, 2023
To determine whether one has the classic or intermediate type, it is important to look at the ratio between branched-chain amino acids, essential as well as non-essential amino acids. Regulated concentration levels usually indicate residual BCKAD enzyme activity. Acute BCKAD enzyme deficiency often affects amino acid homeostasis, which affects the levels of plasma amino acids. In milder forms of MSUD, the concentration levels of plasma branched-chain amino acid might be high, yet the plasma amino acid concentration remains relatively regulated (Nicola, 2011).
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