Elevated Leucine, Isoleucine, and Valine
A toxic buildup of these specific branched-chain amino acids due to an impaired enzymatic breakdown process.
Description
Blood is drawn from the patient and the plasma is separated. High-performance liquid chromatography or mass spectrometry is used to measure branched-chain amino acid concentrations.
Directly Diagnoses
Possible Results / States
Elevated Plasma Homocysteine and Methionine
Abnormally high concentrations of homocysteine and methionine in the blood plasma, indicating a deficiency in cystathionine beta-synthase.