Phenylketonuria (PKU) is a result of an enzyme defect that prevents metabolism of the amino acid phenylalanine and occurs in approximately 1 in every 15,000 (1 in 4,500 in Ireland). PKU can cause mental and motor retardation, poor growth and seizures. With early detection and proper dietary treatment growth and development of infants with PKU should be normal.

Product Info

Disorders of Amino Acid Metabolism

PKU        Phenylketonuria

MSUD     Maple Syrup Urine Disease

HCY        Homocystinuria

TYR-I      Tyrosinaemia Type-I