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What is an inherited autosomal recessive disorder of the blood in which a person lacks the enzyme that is necessary to break down the amino acid phenylalanine then breaks down to form chemicals that?
Phenylketonuria (PKU) is an inherited autosomal recessive disorder caused by a deficiency of the enzyme phenylalanine hydroxylase. This enzyme is necessary to break down the amino acid phenylalanine. Without this enzyme, phenylalanine accumulates in the body and can lead to the formation of harmful byproducts that can cause intellectual disability and other complications. Treatment involves a strict low-phenylalanine diet to prevent these complications.
In phenylketonuria what amino acid becomes conditionally essential?
In phenylketonuria, the amino acid phenylalanine becomes conditionally essential. This is because the body is unable to break down phenylalanine properly, leading to an accumulation of phenylalanine in the blood and potentially toxic levels in the brain. Dietary restriction of phenylalanine is necessary to prevent health complications in individuals with phenylketonuria.
What will happen in the cell of someone who does not make phenylalanine hydroxylase?
In individuals who do not produce phenylalanine hydroxylase, a crucial enzyme for metabolizing the amino acid phenylalanine, phenylalanine accumulates in the body. This accumulation can lead to toxic levels that can cause severe neurological damage and developmental issues, often associated with the genetic disorder phenylketonuria (PKU). Without proper enzyme function, the body cannot convert phenylalanine into tyrosine, resulting in metabolic disruptions and health complications. Consequently, dietary restrictions on phenylalanine intake are necessary to prevent these adverse effects.
Describe 2 genetic disorders and discuss how they are inherited?
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.
Is apert syndrome autosomal or sexlinked?
Apert syndrome is a autosomal dominant genetic disorder, meaning that only one copy of the mutated gene from either parent is necessary to inherit the condition. It is not sex-linked.
What is an inherited autosomal recessive disorder of the blood in which a person lacks the enzyme that is necessary to break down the amino acid phenylalanine then breaks down to form chemicals that?
Phenylketonuria (PKU) is an inherited autosomal recessive disorder caused by a deficiency of the enzyme phenylalanine hydroxylase. This enzyme is necessary to break down the amino acid phenylalanine. Without this enzyme, phenylalanine accumulates in the body and can lead to the formation of harmful byproducts that can cause intellectual disability and other complications. Treatment involves a strict low-phenylalanine diet to prevent these complications.
What is phenylketonuric?
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.
Is what is phenylketonurics?
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.
How do a person get PKU?
Phenylketonuria (PKU) is an inherited metabolic disorder caused by a mutation in the gene responsible for producing the enzyme phenylalanine hydroxylase. This enzyme is necessary for breaking down the amino acid phenylalanine, which is found in many protein-containing foods. PKU is inherited in an autosomal recessive pattern, meaning that a person must receive two copies of the mutated gene, one from each parent, to develop the condition. If both parents are carriers of the PKU gene mutation, there is a 25% chance with each pregnancy that their child will have PKU.
Is inherited autosomal recessive disorder in which a person lacks the enzyme that is necessary to break down a certain lipid in the brain resulting to brain damage?
Tay Sachs Disease
In phenylketonuria what amino acid becomes conditionally essential?
In phenylketonuria, the amino acid phenylalanine becomes conditionally essential. This is because the body is unable to break down phenylalanine properly, leading to an accumulation of phenylalanine in the blood and potentially toxic levels in the brain. Dietary restriction of phenylalanine is necessary to prevent health complications in individuals with phenylketonuria.
What will happen in the cell of someone who does not make phenylalanine hydroxylase?
In individuals who do not produce phenylalanine hydroxylase, a crucial enzyme for metabolizing the amino acid phenylalanine, phenylalanine accumulates in the body. This accumulation can lead to toxic levels that can cause severe neurological damage and developmental issues, often associated with the genetic disorder phenylketonuria (PKU). Without proper enzyme function, the body cannot convert phenylalanine into tyrosine, resulting in metabolic disruptions and health complications. Consequently, dietary restrictions on phenylalanine intake are necessary to prevent these adverse effects.
Is alkaptonuria caused by a recessive or dominant allele?
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.
Describe 2 genetic disorders and discuss how they are inherited?
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.
Is phenylalanine harmful?
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!
Is apert syndrome autosomal or sexlinked?
Apert syndrome is a autosomal dominant genetic disorder, meaning that only one copy of the mutated gene from either parent is necessary to inherit the condition. It is not sex-linked.
What is the mode of inheritance of human growth hormone deficiency?
Human growth hormone deficiency (GHD) can be inherited in several ways, depending on the underlying cause. It can be autosomal recessive, where two copies of a mutated gene are necessary for the condition to manifest, or it can be X-linked, particularly in cases associated with mutations in the GH1 gene. Additionally, some instances of GHD are sporadic and not inherited. Genetic counseling may be beneficial for families affected by hereditary forms of GHD.
