July 31, 2012 # 12:56 pm # PKU Glossary # No Comment
Phenylpyruvic acid, discovered in 1934. by Dr. Ivar Asbjørn Følling, is found in phenylketonuria patients’ urine and is a clear indicator of PKU disorder.
PKU patients lack PAH enzyme and are unable to convert phenylalanine into tyrosine, which enables phenylalanine to acumulate within the body.
July 28, 2012 # 3:27 pm # Key Figures Of PKU History # No Comment
German doctor Horst Bickel (1918. – 2000.) was responsable for discovering the first dietary therapy for phenylketonuria (PKU) patients. Nutritional formula, discovered by Dr. Bickel and his colleagues in 1951., improved the life quality of thousands of PKU patients, helping them to lead a normal and healthy life.
July 26, 2012 # 3:11 pm # PKU Glossary # No Comment
Phenylalanine hydroxylase (PAH) enzyme is responsable for converting phenylalanine amino acid into other important compounds in the body. It recieves instructions from the PHE gene, which can also mutate and reduce the Phenylalanine hydroxylase actvity.
July 24, 2012 # 5:20 pm # PKU Glossary # No Comment
Tyrosine is a nonessential amino acid that is used by cells to synthesize proteins and make brain chemicals and thyroid hormones. Phenylketonuria patients lack enzyme that changes phenylalanine (Phe) into tyrosine, which can increase the Phe levels in their blood.
July 22, 2012 # 8:52 pm # PKU Glossary # No Comment
Phenylalanine is an essential amino acid that is needed for normal human growth and development. Lack of enzyme that changes phenylalanine into another amino acid – called tyrosine, another amino acid that is need to make proteins, brain chemicals and thyroid hormones – can increase the levels of phenylalanine in the blood.
July 22, 2012 # 11:33 am # Key Figures Of PKU History # No Comment
When we discuss about people who have left the deepest mark in phenylketonuria disorder history, two names notably stand out – Dr. Ivar Asbjørn Følling, who discovered PKU, and Dr. Robert Guthrie, the man who made the first practical PKU screening test.