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Questions and Answers
Phenylketonuria is an autosomal dominant disorder caused by mutation in the PAH gene.
Phenylketonuria is an autosomal dominant disorder caused by mutation in the PAH gene.
False
Diet manipulation was successful in treating Phenylketonuria.
Diet manipulation was successful in treating Phenylketonuria.
True
Phenylalanine is converted to tyrosine in individuals with PKU due to active phenylalanine hydroxylase.
Phenylalanine is converted to tyrosine in individuals with PKU due to active phenylalanine hydroxylase.
False
OCA1 involves the enzyme called carboxylase, which converts tyrosine into melanin.
OCA1 involves the enzyme called carboxylase, which converts tyrosine into melanin.
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The incidence of Phenylketonuria is approximately 1 in 10,000 live births.
The incidence of Phenylketonuria is approximately 1 in 10,000 live births.
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Maple Syrup Disease occurs equally in males and females.
Maple Syrup Disease occurs equally in males and females.
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There is a definitive cure for albinism through medication.
There is a definitive cure for albinism through medication.
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Inborn errors of metabolism can affect the metabolism of all nutrients, including amino acids.
Inborn errors of metabolism can affect the metabolism of all nutrients, including amino acids.
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Early diagnosis and treatment of inborn errors of metabolism can prevent neurological abnormalities.
Early diagnosis and treatment of inborn errors of metabolism can prevent neurological abnormalities.
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The symptoms of Maple Syrup Disease include a sweet odor in urine.
The symptoms of Maple Syrup Disease include a sweet odor in urine.
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In Maple syrup urine disease, there is an excess accumulation of phenylalanine.
In Maple syrup urine disease, there is an excess accumulation of phenylalanine.
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A liver transplant is a required treatment for Maple Syrup Disease.
A liver transplant is a required treatment for Maple Syrup Disease.
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Cystinuria is a type of disorder that results from chronic deficiency of amino acids.
Cystinuria is a type of disorder that results from chronic deficiency of amino acids.
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A carrier of a genetic disease will always show symptoms of the disease.
A carrier of a genetic disease will always show symptoms of the disease.
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Mental retardation is a symptom of Alkaptonuria.
Mental retardation is a symptom of Alkaptonuria.
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Cystinuria can cause severe pain in the side or back.
Cystinuria can cause severe pain in the side or back.
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Phenylketonuria (PKU) can be treated with a strictly followed high-protein diet.
Phenylketonuria (PKU) can be treated with a strictly followed high-protein diet.
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Alkaptonuria can result in darkening of urine when exposed to air.
Alkaptonuria can result in darkening of urine when exposed to air.
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Blood in the urine is a symptom of PKU.
Blood in the urine is a symptom of PKU.
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Treatment for cystinuria may include surgery.
Treatment for cystinuria may include surgery.
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A defect in the SLC7A9 gene is associated with Alkaptonuria.
A defect in the SLC7A9 gene is associated with Alkaptonuria.
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Alkaptonuria affects approximately 1 in 250 people worldwide.
Alkaptonuria affects approximately 1 in 250 people worldwide.
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A low-protein diet is recommended as a specific treatment for alkaptonuria.
A low-protein diet is recommended as a specific treatment for alkaptonuria.
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Dark spots in the sclera of the eyes are a clinical symptom of alkaptonuria.
Dark spots in the sclera of the eyes are a clinical symptom of alkaptonuria.
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Albinism is characterized by the absence of the enzyme tyrosinase, which is essential for melanin production.
Albinism is characterized by the absence of the enzyme tyrosinase, which is essential for melanin production.
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Oculocutaneous albinism affects only the eyes, not the skin or hair.
Oculocutaneous albinism affects only the eyes, not the skin or hair.
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Both parents must carry a defective gene for a child to be born with albinism.
Both parents must carry a defective gene for a child to be born with albinism.
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Vision problems in albinos are primarily caused by an excess of melanin in the eyes.
Vision problems in albinos are primarily caused by an excess of melanin in the eyes.
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Ocular albinism is inherited through Y-linked chromosomes, affecting mostly girls.
Ocular albinism is inherited through Y-linked chromosomes, affecting mostly girls.
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Study Notes
Inborn Errors of Metabolism
- Inborn errors of metabolism happen when enzymes involved in metabolism are abnormal.
- Abnormalities are caused by gene mutations encoding enzymes.
- Affected enzymes may be absent or deficient.
- Inborn errors can occur in the metabolism of all nutrients, including amino acids.
- When an enzyme is missing or deficient, metabolism of the relevant amino acid is abnormal.
- Over 50 inborn errors of amino acid metabolism have been discovered.
- These errors often result from decreased synthesis of products, accumulation of intermediates, or formation of alternative metabolites.
- Many inborn errors cause neurological abnormalities and mental retardation.
- Early diagnosis and treatment can prevent neurological abnormalities.
- Treatments usually involve restricted intake or exclusion of the affected amino acid from the diet.
Phenylketonuria (PKU)
- PKU is the most common inborn error of amino acid metabolism.
- It has an incidence of about 1 in 10,000 live births.
- PKU was, historically, the first inborn error of amino acid metabolism to be successfully treated with diet manipulation.
- PKU is characterized by a block in the conversion of phenylalanine to tyrosine.
- Phenylalanine is converted to phenylpyruvate and excreted in the urine.
Cystinuria
- Cystinuria is an inherited disease causing cystine stones to form in the kidneys, bladder, and ureters.
- It is an inherited disease passed down through the genes.
- To inherit cystinuria, a person must inherit the defect from both parents.
- Defects in the genes SLC3A1 and SLC7A9 cause cystinuria.
- The defect causes cystine to accumulate in the kidneys causing problems.
- Kidneys help regulate what goes in and out of the bloodstream.
Homocystinuria
- Cystathionine synthetase is severely deficient in homocystinuria.
- It impairs the conversion from methionine to cysteine.
- This causes homocysteine to accumulate.
- Homocysteine is then converted to homocystine.
- Urinary excretion of homocystine is increased.
Alkaptonuria
- Alkaptonuria is an inborn error of tyrosine metabolism.
- It is caused by a deficiency of homogentisate 1,2-dioxygenase .
- Homogentisate, an intermediate in tyrosine catabolism, cannot be further metabolized.
- This leads to homogentisate excretion in the urine.
- Urine turns black when exposed to air.
- This is also known as black urine disease.
Albinism
- Albinism is a condition characterized by a complete or partial absence of pigment in the skin, hair, and eyes.
- This is due to a deficiency or absence of tyrosinase.
- This enzyme is vital to melanin production from tyrosine.
- This affects all vertebrates, including humans, affecting skin, eyes, and hair color.
- Various forms of albinism exist, such as Ocular (only eyes), and Oculocutaneous (eyes, skin, hair).
Maple Syrup Urine Disease (MSUD)
- MSUD is a rare metabolic disorder.
- The urine produced has a maple syrup odor.
- MSUD occurs at the same rate in males and females.
- It is autosomally recessive, meaning a mutated gene from each parent is needed to develop MSUD.
- Gene mutations in the BCKDC enzymes are responsible.
- These enzymes aren't produced or work properly, leading to a buildup of branched-chain amino acids.
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Description
Test your knowledge on inborn errors of metabolism, focusing on disorders like Phenylketonuria and Maple Syrup Disease. This quiz covers genetic mutations, symptoms, and treatment options related to these metabolic conditions. Perfect for students studying genetics and biochemistry.
