Amino acids serve as key building blocks and as an energy source for cell repair, survival, regeneration and growth.

Amino acids disorders (also called aminoacidopathies) are a group of inborn errors of metabolism diseases, caused by the inherited defects in pathways involved in amino acids metabolism.

All primary amino acids disorders follow an autosomal recessive mode of inheritance which means that the mutation caused a metabolic block is present in the genetic material of both parents.

As a result of mutation, the inherited defect is reflected downstream as a lack or a partial biological activity of enzymes involved in amino acids metabolism. Consequently, some substrates in these pathways accumulate or are diverted into alternative pathways.

Therefore, amino acids disorders are biochemically characterized by abnormal levels of single or several amino acids and their downstream plasma and/or urine metabolites.

Most common metabolic amino acid disorders are Phenylketonuria (PKU) and Maple syrup urine disease (MSUD).

This test quantifies the following Amino Acids:

• Phosphoserine

• Taurine

• Phosphoethanolamine

• Aspartic Acid

• Hydroxyproline

• Threonine

• Serine

• Asparagine

• Glutamic Acid

• Glutamine

• a-Aminoadipic Acid

• Proline

• Glycine

• Alanine

• Citrulline

• a-Amino-n-butyric Acid

• Valine

• Cystine

• Methionine

• Cystathionine

• Isoleucine

• Allo-Isoleucine

• Leucine

• Tyrosine

• b-Alanine

• Phenylalanine

• b-Aminoisobutyric Acid

• Homocystine

• g-Aminobutyric Acid

• Ethanolamine

• Hydroxylysine

• Ornithine

• Lysine

• 1-Methylhistidine

• Histidine

• Tryptophan

• 3-Methylhistidine

• Anserine

• Carnosine

• Arginine