As a first in the world achievement, Labsystems Diagnostics has established a methodology to measure OTC, CPS1 and NAGS deficiencies on dried blood spot along with the traditional detection of ASS, ASL and ARG1 enzyme deficiencies. NeoMass AAAC for tandem MS will therefore enable detection of all urea cycle abnormalities.

Patented innovation by Labsystems Diagnostics

NeoMass AAAC innovation enables detection of all urea cycle deficiencies, including proximal abnormalities along with classical distal deficiencies measurements.

The urea cycle is a metabolic pathway occurring in the liver and kidney. Ammonia, a product of protein metabolism, is removed from circulating blood through urea cycle by conversion into urea and its elimination in urine. Urea Cycle Disorders (UCD) occurs in some inborn errors of metabolism, resulting in accumulation of nitrogenous waste which leads to vomiting, increasing lethargy, seizures, hypotonia, respiratory distress, coma, and to death if untreated. Protein restriction is the mainstay of therapy for the management of urea cycle defects.

Unique Properties of NeoMass AAAC kit – detection of OTC, CPS1 and NAGS deficiencies

Deficiencies of enzymes in the proximal part of the urea cycle have been challenging to detect in the past but the patented innovation in the new NeoMass AAAC kit changes this. As a first in the world achievement, Labsystems Diagnostics has established a methodology to measure OTC, CPS1 and NAGS deficiencies on dried blood spots along with the traditional detection of ASS, ASL and ARG1 enzyme deficiencies. NeoMass AAAC for tandem MS will therefore enable detection of all urea cycle abnormalities.