PKU!
phenylketonuria (pku) i am on Plato :D (C.R)
Water and oxygen are two chemicals necessary for human life.
no.
Chloroplasts
Marfan's syndrome is an autosomal dominant disorder of connective tissues. What is inherited is a defect in the chromosome 15q21, that codes the FBN1 gene. This gene is necessary for proper synthesis if a type of connective tissue called fibrillin. Patients have skeletal abnormalities, eye changes, cardiovascular problems, and a marked tendency to bruise. Tay-Sachs disease is a lysosomal storage disorder, characterised by ganglioside accumulation. This is due to an enzyme deficiency in the lysosome that cannot digest the gangliosides and hence leads to progressive accumulation.
phenylketonuria (pku) i am on Plato :D (C.R)
Phenylketonuria (PKU) is an autosomal recessive genetic disorder characterized by a deficiency in the enzyme phenylalanine hydroxylase (PAH). This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine. When PAH is deficient, phenylalanine accumulates and is converted into phenylpyruvate (also known as phenylketone), which is detected in the urine.
Phenylketonuria (PKU) is an autosomal recessive genetic disorder characterized by a deficiency in the enzyme phenylalanine hydroxylase (PAH). This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine. When PAH is deficient, phenylalanine accumulates and is converted into phenylpyruvate (also known as phenylketone), which is detected in the urine.
Tay Sachs Disease
Phenylketonuria is an autosomal recessive genetic disorder. The enzyme phenylalanine hydroxylase is necessary to metabolize phenylalanie, but when this enzyme doesnt work, phenylaline accumulates and is detected in the urine. The disease is detected during pregnancy, and if treated right away the newborn can develop normally. However, if left untreated, the brain will not develop properly.
No, it is a necessary amino acid for building protein and making certain other chemicals needed by the body. However some people that have a rare genetic disease called PKU, because they do not produce enough of a enzyme that metabolizes unused phenylalanine the chemical keeps building up in the body until it eventually reaches toxic levels (note that anything including water, sugar, oxygen necessary to life will be toxic at a high enough concentration). Sometimes it reaches high enough levels that you can actually smell it when you are near such persons!
Water and oxygen are two chemicals necessary for human life.
From Wikipedia: "the condition follows autosomal dominant inheritance. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child."
Phenylketonuria (PKU) is an inborn error in metabolism that prevents the body from using phenylalanine, an amino acid necessary for normal growth and development.
HEMOPHILIA
no.
Phenylalanine uses the same transport system as tryptophan to cross the blood-brain barrier. They are both large, hydrophobic amino acids. Phenylalanine is an alanine with a phenyl group attached. Tryptophan has an indole ring structure. Both of these amino acids play a role in regulating mood. Phenylalanine is converted to tyrosine, another important amino acid. Tryptophan is necessary for glucose synthesis.