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Phenylpyruvic Acid – A Clear Indicator Of PKU Disorder

Phenylpyruvic Acid – A Clear Indicator Of PKU Disorder

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.

Dr. Horst Bickel – Leader Of PKU Revolution

Dr. Horst Bickel – Leader Of PKU Revolution

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.

Reduced Activity Of PAH Enzyme Can Cause The PKU Disorder

Reduced Activity Of PAH Enzyme Can Cause The PKU Disorder

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.

Tyrosine – Amino Acid That Regulates Your Mood And Hair Color

Tyrosine – Amino Acid That Regulates Your Mood And Hair Color

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.

Phenylalanine – Essential Amino Acid For Normal Growth And Development

Phenylalanine – Essential Amino Acid For Normal Growth And Development

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.

Dr. Robert Guthrie – “Father” Of Mass Newborn Screening

Dr. Robert Guthrie – “Father” Of Mass Newborn Screening

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.

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