JAYS QUIZPAD: Inborn Errors of Metabolism Quiz
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Questions and Answers

Phenylketonuria is an autosomal dominant disorder caused by mutation in the PAH gene.

False (B)

Diet manipulation was successful in treating Phenylketonuria.

True (A)

Phenylalanine is converted to tyrosine in individuals with PKU due to active phenylalanine hydroxylase.

False (B)

OCA1 involves the enzyme called carboxylase, which converts tyrosine into melanin.

<p>False (B)</p> Signup and view all the answers

The incidence of Phenylketonuria is approximately 1 in 10,000 live births.

<p>True (A)</p> Signup and view all the answers

Maple Syrup Disease occurs equally in males and females.

<p>True (A)</p> Signup and view all the answers

There is a definitive cure for albinism through medication.

<p>False (B)</p> Signup and view all the answers

Inborn errors of metabolism can affect the metabolism of all nutrients, including amino acids.

<p>True (A)</p> Signup and view all the answers

Early diagnosis and treatment of inborn errors of metabolism can prevent neurological abnormalities.

<p>True (A)</p> Signup and view all the answers

The symptoms of Maple Syrup Disease include a sweet odor in urine.

<p>True (A)</p> Signup and view all the answers

In Maple syrup urine disease, there is an excess accumulation of phenylalanine.

<p>False (B)</p> Signup and view all the answers

A liver transplant is a required treatment for Maple Syrup Disease.

<p>False (B)</p> Signup and view all the answers

Cystinuria is a type of disorder that results from chronic deficiency of amino acids.

<p>False (B)</p> Signup and view all the answers

A carrier of a genetic disease will always show symptoms of the disease.

<p>False (B)</p> Signup and view all the answers

Mental retardation is a symptom of Alkaptonuria.

<p>False (B)</p> Signup and view all the answers

Cystinuria can cause severe pain in the side or back.

<p>True (A)</p> Signup and view all the answers

Phenylketonuria (PKU) can be treated with a strictly followed high-protein diet.

<p>False (B)</p> Signup and view all the answers

Alkaptonuria can result in darkening of urine when exposed to air.

<p>True (A)</p> Signup and view all the answers

Blood in the urine is a symptom of PKU.

<p>False (B)</p> Signup and view all the answers

Treatment for cystinuria may include surgery.

<p>True (A)</p> Signup and view all the answers

A defect in the SLC7A9 gene is associated with Alkaptonuria.

<p>False (B)</p> Signup and view all the answers

Alkaptonuria affects approximately 1 in 250 people worldwide.

<p>False (B)</p> Signup and view all the answers

A low-protein diet is recommended as a specific treatment for alkaptonuria.

<p>False (B)</p> Signup and view all the answers

Dark spots in the sclera of the eyes are a clinical symptom of alkaptonuria.

<p>True (A)</p> Signup and view all the answers

Albinism is characterized by the absence of the enzyme tyrosinase, which is essential for melanin production.

<p>True (A)</p> Signup and view all the answers

Oculocutaneous albinism affects only the eyes, not the skin or hair.

<p>False (B)</p> Signup and view all the answers

Both parents must carry a defective gene for a child to be born with albinism.

<p>True (A)</p> Signup and view all the answers

Vision problems in albinos are primarily caused by an excess of melanin in the eyes.

<p>False (B)</p> Signup and view all the answers

Ocular albinism is inherited through Y-linked chromosomes, affecting mostly girls.

<p>False (B)</p> Signup and view all the answers

Flashcards

Inborn Errors of Metabolism

A group of genetic disorders where a person's body can't properly break down certain substances called amino acids. These conditions are caused by a missing or faulty enzyme.

Disorders of Amino Acid Metabolism

An inborn error specifically affecting the metabolism of amino acids. These errors can be caused by various reasons, including decreased synthesis of essential products, accumulation of harmful byproducts, and the formation of unusual metabolites.

Phenylketonuria (PKU)

A common inborn error affecting phenylalanine metabolism, where the body can't convert phenylalanine to tyrosine due to a missing or faulty enzyme.

Phenylalanine Hydroxylase

The enzyme responsible for converting phenylalanine to tyrosine in normal metabolism. In PKU, this enzyme is missing or faulty.

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Normal Amino Acid Metabolism

A common metabolic pathway for amino acids from food and muscle. This pathway involves the breakdown and conversion of amino acids.

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Phenylalanine Build-up

The build-up of phenylalanine in the body due to a lack of phenylalanine hydroxylase, which leads to various health problems.

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PKU Inheritance

An autosomal recessive genetic disorder caused by mutations in the PAH gene, leading to PKU.

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PAH gene location

The 12th chromosome is the location where the PAH gene responsible for PKU is found.

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What is Albinism?

A rare genetic disorder characterized by a deficiency in the enzyme tyrosinase, leading to a lack of melanin production.

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Albinism

Albinism is a condition where the body doesn't produce enough melanin, the pigment that gives color to skin, eyes, and hair.

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What is Maple Syrup Disease (MSUD)?

A rare metabolic disorder causing the body to struggle to break down certain amino acids, leading to a distinctive maple syrup odor in urine.

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Maple Syrup Disease (MSUD)

Maple Syrup Disease (MSUD) is a rare disorder where the body can't break down certain amino acids properly, causing a sweet maple syrup smell in the urine.

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How is Maple Syrup Disease (MSUD) Inherited?

Maple syrup urine disease is inherited when a child receives a copy of a mutated gene from each parent, preventing the proper functioning of specific enzymes.

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Alkaptonuria

A rare inherited condition where the body cannot break down homogentisic acid, leading to its buildup in tissues and causing various symptoms, including darkening of urine, cartilage, and skin.

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Urine test for Alkaptonuria

A urine test where ferric chloride is added to the urine, turning it black in patients with alkaptonuria.

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Alkaptonuria Treatment

The primary treatment for alkaptonuria is a low-protein diet, but there is no cure.

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Tyrosinase

A copper-containing enzyme responsible for producing melanin, which is absent or defective in individuals with albinism.

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Albinism Inheritance

A genetic condition inherited from both parents, where a defective gene prevents the production of melanin.

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Ocular Albinism (OA)

A type of albinism that only affects the eyes, leaving the hair and skin unaffected.

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Oculocutaneous Albinism (OCA)

A type of albinism affecting the eyes, hair, and skin, with various sub-types.

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Carrier of a genetic disease

A carrier has no symptoms of the disease but possesses the defective gene that they can pass on to their children.

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What is Phenylketonuria (PKU)?

A rare inherited metabolic disorder caused by a deficiency in phenylalanine hydroxylase, an enzyme essential for breaking down phenylalanine. This leads to an accumulation of phenylalanine in the blood causing brain damage if untreated.

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How is Phenylketonuria (PKU) treated?

A special diet low in phenylalanine is crucial for managing PKU, particularly in early life. This diet must be sustained throughout life for the best physical and mental health outcomes.

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What is Cystinuria?

An inherited disorder that causes the formation of stones made of cystine in various parts of the urinary tract. It arises from a defect in the gene that transports cystine, leading to its accumulation in the kidneys.

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How is Cystinuria treated?

Cystinuria is treated by managing kidney stone formation through diet modifications, medication, and potentially surgery.

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What is Alkaptonuria?

A rare metabolic disorder that causes the body to be unable to break down homogentisate, a byproduct of tyrosine breakdown. This leads to its accumulation in the body, particularly in urine.

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What are the symptoms of Alkaptonuria?

The key symptom of Alkaptonuria is dark urine that turns black upon oxidation. This is due to the accumulation of homogentisate in urine and its reaction with oxygen.

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How is Alkaptonuria treated?

There is currently no cure for Alkaptonuria; treatment focuses on managing symptoms and preventing further complications.

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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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In-born Errors of Metabolism PDF

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.

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