Phenylalanine hydroxylase

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. When someone has PKU they will have to live with eating a special diet, to make sure that they dont intake excess amount of phenylalanine. In many extreme cases of the disorder the person is not capable of creating Phenylalanine Hydroxylase, making it so they aren't able to intake any food product including the amino acid, to prevent any further symptoms from appearing. Many symptoms appear in a person that has this special disorder. These symptoms include:” Intellectual disability, delayed development, Behavior, emotional, and social problems, psychiatric disorders, neurological problems, hyperactivity, poor bone strength, skin rashes, etc.”(Mayo Clinic Staff, symptoms of PKU). All symptoms…

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…

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…

Abstract Background: Understanding the variation in progression from normal to precocious puberty is a matter of concern. Beside idiopathic central precocious puberty, CAH is an important cause of gonadotropin independent precocious puberty that requires a comprehensive treatment regimen to achieve normal growth and pubertal development. Aim of the work: This study aimed to evaluate growth and pubertal changes in children with CAH. Also, to consider the idiopathic central precocious puberty.…

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…

Phenylketonuria, otherwise known as PKU, is a rare genetic condition that induces a buildup of a type of amino acid called phenylalanine. Because amino acids are the basis for proteins, phenylalanine is found in all proteins. The human body needs tyrosine, a type of amino acid, to form neurotransmitters like epinephrine or dopamine. To produce this the body uses the enzyme phenylalanine hydroxylase to develop into the tyrosine your body needs. When the phenylalanine hydroxylase gene has a…

system, it relies on the expression of tyrosine hydroxylase (TH) and aromatic amino acid decarboxylase (AADC), which are enzyme catalysts, as well as vesicle transporters (DAT, vMAT), degradation enzymes (MAO and COMT), and D1 and D2 receptors on target cells (Kapsimali, 2000). The enzymes TH and AADC, as well as the transporter vMAT and D1 and D2 receptors, are present in bilaterian groups, excluding sponges, cnidarians, ctenophores, and placozoans. MAO and COMT are found only in chordates…

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:…

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…

sugars and acids, storing in the body tissues, liver or other muscles and serve as fuel making it possible the functioning of our body. Metabolic disorder, in fact, takes place when abnormal chemical reactions in your body prevent that process from happening or completing. There are different groups of disorder though; some of them would affect the breakdown of food and some others the cells that produce the energy. While metabolic disorders are various, in this assignment I would like to…