Biochemical Genetics Testing:

Amino Acids (Full Profile) Plasma, Urine, or CSF

  • 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).

Available Tests
Turnaround Time = 48-72 hours, priority given to critically ill patients and infants less than one year of age