Phenylalanine

Phenylketonuria is an autosomal recessive disorder and a common metabolic cause of mental retardation. This inborn error of metabolism is characterized by a deficiency in phenylalanine (Phe) hydroxylase activity, due to mutations in the Phe hydroxylase (PAH) gene. Phenylalanine hydroxylase is responsible for converting Phe to Tyr and requires the cofactor tetrahydrobiopterin (BH4), molecular oxygen, and iron for its action (Blau et al., 2010). The reductant, BH4 is maintained in the reduced state by the NADH-dependent enzyme dihydropteridine reductase. Decreased PAH activity results in elevated Phe concentrations in blood and body tissue. As a result, approximately 75% of untreated patients experience severe neurological dysfunction (Brumm and Grant, 2010). Phe is a large neutral amino acid that competes for transport across the blood brain barrier via the L-type amino acid carrier. Excessive levels of Phe in the blood saturates these transporters and subsequently cause a decrease in transportation of other large neutral amino acids into the brain which is required for protein and neurotransmitter synthesis (Blau et al., 2010). Neurological…

acids that are needed across the urine. Babies with this disease are missing an enzyme its called phenylalanine hydroxylase, which is needed to break down an essential amino acid called phenylalanine. The substance is found in foods that contain protein. Phenylalanine is one of those vinyl Ayton amino acids that makes these people with this disease unable…

One of the most severe cases of PKU is known as,”Classic PKU”. This form of PKU is caused when the mutation of the PAH gene causes the creation of the enzyme Phenylalanine hydroxylase is reduced exponentially to almost nothing. In this case when left untreated can have very severe outcomes. In untreated cases of Pku, the individual with the disorder can gain brain damage. As well as have many different intellectual disabilities. They child might even have seizures related to having PKU.…

The possibilities of two unknown microorganisms lead to phenylalanine deaminase test. The detection of phenylalanine deaminase enzyme was carried out by adding ferric chloride to phenyaline slant. When ferric chloride was added to phenylalanine deaminase tube, it turned into army green color( positive result) which indicated that unknown microorganism contains phenylalanine deaminase enzyme. On the other hand, no color change in the slant indicates negative result for this test. The choices…

Introduction Phenylalanine hydroxylase (PAH) deficiency is an autosomal recessive disorder also know as phenylketonuria (PKU). (1,2,3) This disease results from mutations in the phenylalanine hydroxylase gene, making the body unable to utilize the amino acid phenylalanine properly. (1) Phenylalanine hydroxylase converts phenylalanine to tyrosine. Without adequate phenylalanine hydroxylase levels, phenylalanine accumulates which can lead to toxic levels in the blood. Buildup of phenylalanine can…

They are not flammable, however propanol and acetic acid can pose health risks or flammable. The ninhydrin can stain your skin purple all day if you don’t wear gloves when using it. Phenylalanine was one of the amino acid that used in the lab. It falls under the essential amino acid group. There are 3 forms of phenylalanine: D-phenylalanine, L-phenylalanine, DL-phenylalanine (m.webmd.com). Meat, fish, cheese, milk, and eggs are the major dietary sources of phenylalanine. Phenylalanine is used…

disorder caused by the mutation of the PAH gene. The PAH gene is responsible for creating the enzyme phenylalanine hydroxylase. This enzyme breaks down the amino acid phenylalanine into tyrosine for the body. This mutation causes the PAH gene to not break down the phenylalanine and because so, dangerous and toxic levels of phenylalanine can build up in the blood, brain, and other organs and tissues. Without being able to digest phenylalanine, the amino acid will build up in the body and cause…

Integumentary Disease: Phenylketonuria Skin diseases vary from case to case, whether it is a common case or a rare case, like phenylketonuria. Phenylketonuria, otherwise known as PKU, is a rare genetic disease that is caused by a negative body affliction causing inability to metabolize the amino acid phenylalanine. The disease can cause Mental health issues as well as others because of the excess of phenylalanine in the body. When phenylalanine is not broken down and turned in a different amino…

for its neurological effects, but the other products are not as recognized, such as aspartate which has been linked to problems such as memory, weight gain and brain lesions in those subjected to their ingestion (Spatial, 1). Phenylalanine itself can be dangerous prenatally from its active movement across the placenta and postnatally concerning those with phenylketonuria. This disorder makes the children unable to metabolize phenylalanine properly and causing a buildup that can be so disastrous…

In this paper Phenylketonuria causative mutations, signs and symptoms along with treatment and long term prognosis are discussed to help individuals better understand Phenylketonuria and its effects on our population. Increasing public awareness towards Phenylketonuria can help lead to further research in hopes of medical advancements and encourage newborn screening in under developed countries. Abbreviations: PHE, Phenylalanine; PAH, Phenylalanine Hydrolase; PKU, Phenylketonuria Keywords:…