Chromatographic diagnosis of maple syrup urine disease by measuring the l-alloisoleucine/l-phenylalanine ratio in dried blood spots

Quantification of branched-chain amino a

Quantification of branched-chain amino acids in blood spots and plasma by liquid chromatography tandem mass spectrometry for the diagnosis of maple syrup urine disease

✍ John Sowell; Laura Pollard; Tim Wood 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 365 KB 👁 1 views

## Abstract Individuals with maple syrup urine disease (MSUD) have an inherited metabolic disorder resulting in a deficiency in the branched‐chain keto‐acid dehydrogenase complex. As a result, these individuals have elevated concentrations of the branched‐chain amino acids valine, isoluecine, allo‐