What does Hyperphenylalaninemia mean?
Hyperphenylalaninemia is broadly defined as the presence of blood phenylalanine levels that exceed the limits of the upper reference range (2 mg/dL or 120 µmol/L) without treatment but that are below the level found in patients with phenylketonuria (PKU).
Where is phenylalanine produced?
Liver cells
Liver cells contain an enzyme called phenylalanine hydroxylase, which can add this group and convert phenylalanine to tyrosine. Thus as long as this enzyme is functional and there is a reasonable supply of phenylalanine, tyrosine can be synthesized in your body and does not have to be included in the food that you eat.
What causes phenylketonuria?
PKU is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine. Without the enzyme necessary to process phenylalanine, a dangerous buildup can develop when a person with PKU eats foods that contain protein or eats aspartame, an artificial sweetener.
How phenylketonuria is inherited?
PKU is inherited from a person’s parents. The disorder is passed down in a recessive pattern, which means that for a child to develop PKU, both parents have to contribute a mutated version of the PAH gene. If both parents have PKU, their child will have PKU as well.
Is hyperphenylalaninemia same as phenylketonuria?
Hyperphenylalaninemia is a medical condition characterized by mildly or strongly elevated concentrations of the amino acid phenylalanine in the blood. Phenylketonuria (PKU) can result in severe hyperphenylalaninemia.
Is hyperphenylalaninemia the same as PKU?
Benign hyperphenylalaninemia (H-PHE) is a form of phenylketonuria (PKU). Different forms of PKU have varying severity of signs. Because H-PHE is a less severe type of PKU, babies with H-PHE typically do not show any signs.
What is phenylalanine used for?
Phenylalanine is used for depression, attention deficit-hyperactivity disorder (ADHD), Parkinson’s disease, chronic pain, osteoarthritis, rheumatoid arthritis, alcohol withdrawal symptoms, and a skin disease called vitiligo.
What type of mutation is phenylketonuria?
Classical PKU is an autosomal recessive disorder, caused by mutations in both alleles of the gene for phenylalanine hydroxylase (PAH), found on chromosome 12.
Is phenylketonuria dominant or recessive?
PKU is inherited in families in an autosomal recessive pattern. Autosomal recessive inheritance means that a person has two copies of the gene that is altered. Usually, each parent of an individual who has PKU carries one copy of the altered gene.
Is PKU genetic or chromosomal?
PKU is inherited in an autosomal recessive pattern. Recessive genetic disorders occur when an individual inherits an abnormal gene from each parent. If an individual receives one normal gene copy and one abnormal gene copy, they will be a carrier for the condition, but will not have symptoms.
Is PKU hereditary or environmental?
Is PKU inherited? PKU is inherited in families in an autosomal recessive pattern. Autosomal recessive inheritance means that a person has two copies of the gene that is altered. Usually, each parent of an individual who has PKU carries one copy of the altered gene.
Can pyruvoyl peptide be condensed with peptide thioester?
The pyruvoyl peptide could be condensed with a peptide thioester by the thioester method, and this protecting group was easily removed by o -phenylenediamine treatment without significant side reactions.
What is the dependent variable in the growth of a plant?
The growth is the dependent variable. It is the effect of the amount of sunlight. In some types of research, it’s not possible to manipulate a factor, so the researchers must determine the independent variable they are studying in order to measure outcomes.
What is an example of a dependent variable?
The dependent variable is the outcome of the manipulation. For example, if you are measuring how the amount of sunlight affects the growth of a type of plant, the independent variable is the amount of sunlight. You can control how much sunlight each plant gets. The growth is the dependent variable.
What is the dependent variable in the fertilizer experiment?
The rate of growth is the dependent variable. So, to perform an experiment, you would fertilize plants with one fertilizer and measure the change in height of the plant over time, then switch fertilizers and measure the height of plants over the same span of time.