Tuesday, Oct 15, 2019
engineered enzymes for better healthcare

Homocystinuria (HCY) is caused by an enzyme deficiency that blocks the metabolism of homocysteine and occurs in approximately 1 in every 68,000 (Ireland). The major clinical features include optical dislocation (affecting 80% of HCY by age 15), mental retardation, osteoporosis and thromboembolism causing death in 50% of HCY by age 20 and 75% by age 30. With early detection, strict dietary management and vitamin supplements, growth and development should be normal.

Product Info

 

amino acid disorders productDisorders of Amino Acid Metabolism

PKU        Phenylketonuria

MSUD     Maple Syrup Urine Disease

HCY        Homocystinuria

TYR-I      Tyrosinaemia Type-I

 

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