Term

Definition

Branched chain amino acids (BCAA)

The branched-chain amino acids include: leucine (LEU), valine (VAL), isoleucine (ILE) and allo-isoleucine (allo-ILE). They are catabolized by deamination to the branched chain α-keto acids (BCKA) which then become the substrates for branched chain α-ketoacid dehydrogenase

Branched chain α-ketoacid dehydrogenase (BCKD)

An enzyme in the pathway for the catabolism of branched chain amino acids. Deleterious mutations in the DNA coding for this enzyme result in the various forms of Maple Syrup Urine Disease or BCKD deficiency

Thiamin pyrophosphate (TPP)

A co-factor necessary, along with co-enzyme A and NAD ⁺, for the action of BCKD on the BCKAs. Some milder variant forms of BCKD can be activated by adding thiamin to the treatment protocol

MS/MS NBS

Tandem mass spectrometry newborn screening. This technology allows multiple analytes to be identified and quantified in blood spots collected from newborns to screen for multiple genetic disorders

Intact protein

Protein as it exists in its natural state in foods

Parenteral nutrition (TPN)

The feeding of nutritional products to a person intravenously, bypassing the usual process of eating and digestion. The products are necessarily in a more elemental form, e.g., amino acids instead of intact proteins

Hemoperfusion

A method of filtering the blood extracorporeally to remove a toxin or lower the concentration of other substances. As with other extracorporeal methods, such as hemodialysis (HD), hemofiltration (HF) and hemodiafiltration (HDF), the filtered blood is then returned to the body through venous access.

Modified low-protein foods

Foods, including pastas and baked goods where higher protein grains/flours are replaced by protein-free starches

Nutrition care process (NCP)

A process developed by the Academy of Nutrition and Dietetics to document nutrition problems by defining the PROBLEM, its ETIOLOGY and evidenced by SIGNS and SYMPTOMS