What does phenylalanine hydroxylase do in the body?
Normal Function
Phenylalanine hydroxylase is responsible for the conversion of phenylalanine to another amino acid, tyrosine. The enzyme works with a molecule called tetrahydrobiopterin (BH4) to carry out this chemical reaction.
What is the function of hydroxylase enzyme?
Function. Hydroxylases are enzymes which add an hydroxyl group to organic compounds. This addition is the first step of aerobic oxidative degradation.
Is Phe an enzyme?
Biological function. PAH is a critical enzyme in phenylalanine metabolism and catalyzes the rate-limiting step in its complete catabolism to carbon dioxide and water.
Where is PAH located?
chromosome 12
The human PAH gene is located on the long arm of chromosome 12 (12q23. 2). It contains 13 exons and 12 introns and spans about 90 kbp encoding a monomer of 452 amino acids (1, 9–12).
How does phenylalanine affect the brain?
The high plasma phenylalanine concentrations increase phenylalanine entry into brain and restrict the entry of other large neutral amino acids. In the literature, emphasis has been on high brain phenylalanine as the pathological substrate that causes mental retardation.
How does PKU affect the brain?
PKU affects the brain.
High blood Phe levels can cause disruptions in neurotransmitters like serotonin and dopamine, which are important for mood, learning, memory, and motivation. In addition to disrupting neurotransmitter balance, Phe itself can be directly toxic to the brain.
Why is hydroxylation important?
Hydroxylation is important in detoxification since it converts lipophilic compounds into water-soluble (hydrophilic) products that are more readily removed by the kidneys or liver and excreted. Some drugs (for example, steroids) are activated or deactivated by hydroxylation.
What is the meaning of hydroxylase?
-ˌlāz. : any of a group of enzymes that catalyze oxidation reactions in which one of the two atoms of molecular oxygen is incorporated into the substrate and the other is used to oxidize NADH or NADPH.
Does Coke Zero contain phenylalanine?
Some of our reduced and no sugar, no calorie drinks like Diet Coke and Coca‑Cola Zero Sugar are sweetened with aspartame, which contains a source of phenylalanine, and so all our products are carefully labelled to make this clear.
What health condition is related to the PAH gene?
Overview. Phenylketonuria (fen-ul-key-toe-NU-ree-uh), also called PKU, is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKU is caused by a change in the phenylalanine hydroxylase (PAH) gene. This gene helps create the enzyme needed to break down phenylalanine.
Is PAH a protein?
PAH (Phenylalanine Hydroxylase) is a Protein Coding gene. Diseases associated with PAH include Phenylketonuria and Hyperphenylalaninemia.
Does PKU affect memory?
When neurotransmitters are not made in the right amounts, the brain cannot function properly. High blood Phe levels can cause disruptions in neurotransmitters like serotonin and dopamine, which are important for mood, learning, memory, and motivation.
Why is phenylalanine in Coke?
This neurotransmitter enhances mental alertness and memory and improves mood. It also suppresses appetite, which is probably the reason for the mention of Phenylalanine on food labels – an indication that it might be used as a ‘dietary aid’.
What foods can PKU patients not eat?
People with PKU must avoid foods that are high in protein like meat, fish, poultry, dairy, soy, legumes (dried beans) or nuts. Some fruits and vegetables are higher in protein than others. PHE is in almost everything except sugar, salt, oil, and water.
What type of enzyme is a hydroxylase?
Hydroxylases are enzymes that catalyze the addition of -OH (hydroxyl) groups to their substrate during oxidation reactions. This diverse group of enzymes includes tryptophan hydroxylase (E.C. 1.14. 16.4), which is involved in serotonin synthesis; steroid 11-β hydroxylase (also known as CYP11B1) (E.C.
What is the purpose of hydroxylation?
Why do they put phenylalanine in soda?
What soda has no aspartame?
Aspartame is still present in the Coca-Cola products Diet Coke, Fanta Zero, Fresca and Coke Zero.
…
Diet Soda Without Aspartame.
| Diet Sodas With Aspartame | Diet Sodas Without Aspartame |
|---|---|
| Pepsi Zero Sugar | Hansen’s |
| Diet Barq’s | |
| Sprite Zero | |
| Fanta Zero |
Why is phenylalanine toxic to the brain?
High blood levels of phenylalanine can saturate the transport system across the blood-brain barrier and cause inhibition of the cerebral uptake of other large neutral amino acids such as branched-chain amino acids, tyrosine, and tryptophan, impairing brain protein synthesis.
What can PKU patients eat?
The diet for PKU consists of a phenylalanine-free medical formula and carefully measured amounts of fruits, vegetables, bread, pasta, and cereals. Many people who follow a low phenylalanine (phe) food pattern eat special low protein breads and pastas.
How big is the PAH gene?
90 kb.
The human PAH gene, which is located on chromosome 12q, consists of 13 exons spanning 90 kb. To date, more than 520 different mutations in the PAH gene have been characterized in PKU patients and recorded in the PAH Mutation Analysis Consortium Database (http://www.pahdb.mcgill.ca).
Does PKU make you tired?
In the PKU patients study, we showed that PKU patients compared to FDR controls have more sleep disorders, a reduced sleep quality, an increased latency to fall asleep, and experience more sleepiness during the day.
Does PKU cause depression?
Depression. Rates of depression are significantly higher among adults with PKU than the general population (63). Depression is reported by up to half of adult patients in survey data (64, 65).
Does phenylalanine raise blood sugar?
Conclusion: In summary, phenylalanine in an amount moderately greater than that in a large protein meal stimulates an increase in insulin and glucagon concentration. It markedly attenuates the glucose-induced rise in plasma glucose when ingested with glucose.
Is PKU a disability?
Phenylketonuria (pronounced fen-l-kee-toh-NOOR-ee-uh), often called PKU, is an inherited disorder that that can cause intellectual and developmental disabilities (IDDs) if not treated.