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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).

  • 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

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

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