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.

Guthrie Test – A Test That Brought PKU Screening To Every Hospital

Guthrie Test – A Test That Brought PKU Screening To Every Hospital

Guthrie test, named after American bacteriologist Dr. Robert Guthrie (1916. – 1995.), is a newborn phenylketonuria (PKU) screening tool which measures the level of phenylalanine (PHE) amino acid in infants’ blood.

1934. – The Year Of The World’s First PKU Test

1934. – The Year Of The World’s First PKU Test

Instead of red-brown urine color reaction and ketones discovery, the girls’ urine sample assumed a dark-green color which faded in a few minutes. Repeated tests after two weeks gave Dr. Følling the same results, which further intrigued him to finally find and isolate the main source of this unusual chemical reaction.

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