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Inborn Errors of Metabolism Quiz

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Inborn Errors of Metabolism Quiz

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Test your knowledge on metabolic disorders!

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Biochemistry department
Biochemistry department
India

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Inborn Errors of Metabolism Quiz
 

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Inborn Errors of Metabolism QuizVersión en línea

Test your knowledge on metabolic disorders!

por Biochemistry department
1

A child with a mousy odor of urine and mental retardation is most likely suffering from:

2

The presence of reducing substances in urine along with symptoms like cataracts, jaundice, and hepatomegaly, upon introduction of milk feeds in an infant, most strongly suggests a defect in the metabolism of which sugar?

3

Which enzyme deficiency is directly responsible for the accumulation of phenylalanine and its metabolites, leading to Phenylketonuria (PKU)?

4

In a patient presenting with hyperammonemia and elevated orotic acid in urine is due to which urea cycle enzyme deficiency?

5

The 'cherry-red spot' on the macula, observed in which lysosomal storage disorder?

6

The most accurate primary management strategy for classical Phenylketonuria (PKU) diagnosed in infancy is?

7

What is the primary treatment for some inborn errors of amino acid metabolism ?

8

Lesch-Nyhan syndrome is due to deficiency of an enzyme involved in which metabolic pathway?

9

Which of the following is a classic example of a peroxisomal biogenesis disorder ?

10

Which enzyme deficiency causes Gaucher Disease ?

11

Which specific enzyme deficiency is directly responsible for the characteristic severe fasting hypoglycemia, hepatomegaly, and lactic acidosis?

12

Which enzyme is deficient in Hereditary Fructose Intolerance (HFI)?

13

A key function of the HMP Shunt is to produce NADPH. Deficiency of which enzyme in this pathway can lead to hemolytic anemia?

14

Which enzyme deficiency is primarily responsible for Classic Galactosemia ?

15

Which amino acid inborn error is characterized by severe liver failure, renal tubular dysfunction, and a 'cabbage-like' odor ?

16

A child presents with severe neurological symptoms, including intractable seizures and hypotonia, found to have significantly elevated glycine levels. what is the defect?

17

Dietary management of Urea Cycle Disorders typically involves restriction of which macronutrient to minimize ammonia production?

18

Which enzyme deficiency is characteristic of Acute Intermittent Porphyria (AIP)?

19

A patient presents with fair skin, white hair, and blue eyes. This presentation is most consistent with a defect in:

20

The bluish-black discoloration of connective tissues seen in Alkaptonuria is known as:

21

Which vitamin is crucial for the treatment of approximately half of Homocystinuria cases, specifically those responsive to it?

22

The most common site for an acute gout attack (podagra) is the:

23

Which of the following is the most common neurological symptom observed in individuals with Hartnup disease?

24

which metabolic pathway defect leads to accumulation of toxic metabolite Methylmalonic Acid?

25

The megaloblastic anemia in Orotic Aciduria is caused by impaired synthesis of which key cellular components necessary for DNA replication?

26

The classical symptoms of Lesch-Nyhan Syndrome is?

27

A positive ferric chloride test indicates:

28

Which of the following is a lysosomal storage disorder?

29

McArdle disease (GSD type V) affects:

30

Which of the following presents with "doll-like face" and severe fasting hypoglycemia?

31

The accumulation of which amino acid is primarily responsible for neurotoxicity in MSUD?

32

Which vitamin may benefit patients with a milder form of MSUD?

33

Which crystal shape is typically seen in the urine of cystinuria patients?

34

Which drug can be used to help dissolve cystine stones in severe cases?

35

Which of the following is the screening test for cystinuria?

36

Melanin is derived from which amino acid?

37

Which amino acid is a precursor for serotonin and melatonin?

38

Refsum disease is characterized by accumulation of:

39

Which of the following triggers can precipitate an acute attack of porphyria?

40

Which sugar alcohol accumulates in the lens leading to cataracts in galactosemia?

 
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