Inborn Errors of Metabolism Quiz

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Test your knowledge on metabolic disorders!

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Biochemistry department

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Inborn Errors of Metabolism Quiz


Froggy Jumps Inborn Errors of Metabolism QuizVersion en ligne Test your knowledge on metabolic disorders! par Biochemistry department 1 A child with a mousy odor of urine and mental retardation is most likely suffering from: a Albinism b Phenylketonuria c Alkaptonuria 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? a Galactose b Glucose c Lactose 3 Which enzyme deficiency is directly responsible for the accumulation of phenylalanine and its metabolites, leading to Phenylketonuria (PKU)? a Tyrosinase b Galactose-1-phosphate uridyltransferase c Phenylalanine hydroxylase 4 In a patient presenting with hyperammonemia and elevated orotic acid in urine is due to which urea cycle enzyme deficiency? a Ornithine transcarbamylase (OTC) b Arginase c Carbamoyl phosphate synthetase I (CPS1) 5 The 'cherry-red spot' on the macula, observed in which lysosomal storage disorder? a Tay-Sachs disease b Fabry disease c Niemann-Pick disease Type A 6 The most accurate primary management strategy for classical Phenylketonuria (PKU) diagnosed in infancy is? a Supplementation with large doses of L-carnitine b Dietary restriction of branched-chain amino acids c Strict lifelong dietary restriction of phenylalanine 7 What is the primary treatment for some inborn errors of amino acid metabolism ? a Surgery b Antibiotics c Dietary management 8 Lesch-Nyhan syndrome is due to deficiency of an enzyme involved in which metabolic pathway? a Urea cycle b Purine salvage pathway c Glycogenolysis 9 Which of the following is a classic example of a peroxisomal biogenesis disorder ? a Refsum disease b Carnitine palmitoyltransferase II (CPT II) deficiency c Zellweger syndrome 10 Which enzyme deficiency causes Gaucher Disease ? a Hexosaminidase A b Glucocerebrosidase (β-glucosidase) c Acetylcholinesterase 11 Which specific enzyme deficiency is directly responsible for the characteristic severe fasting hypoglycemia, hepatomegaly, and lactic acidosis? a Muscle glycogen phosphorylase b Glucose-6-phosphatase c Debranching enzyme 12 Which enzyme is deficient in Hereditary Fructose Intolerance (HFI)? a Aldolase B b Sucrase-isomaltase c Sucrase-isomaltase 13 A key function of the HMP Shunt is to produce NADPH. Deficiency of which enzyme in this pathway can lead to hemolytic anemia? a Glucose-6-phosphate dehydrogenase (G6PD) b Pyruvate kinase c Phosphofructokinase-1 (PFK-1) 14 Which enzyme deficiency is primarily responsible for Classic Galactosemia ? a Galactose-1-phosphate uridyltransferase (GALT) b Galactokinase c Lactase 15 Which amino acid inborn error is characterized by severe liver failure, renal tubular dysfunction, and a 'cabbage-like' odor ? a Tyrosinemia Type I b Alkaptonuria c Maple Syrup Urine Disease 16 A child presents with severe neurological symptoms, including intractable seizures and hypotonia, found to have significantly elevated glycine levels. what is the defect? a Branched-chain amino acid metabolism b Fatty acid oxidation c Glycine cleavage system (Non-ketotic Hyperglycinemia) 17 Dietary management of Urea Cycle Disorders typically involves restriction of which macronutrient to minimize ammonia production? a Protein b Carbohydrate c Vitamins 18 Which enzyme deficiency is characteristic of Acute Intermittent Porphyria (AIP)? a Porphobilinogen deaminase b Coproporphyrinogen oxidase c Ferrochelatase 19 A patient presents with fair skin, white hair, and blue eyes. This presentation is most consistent with a defect in: a Lysosomal function b Tyrosinase activity c Melanosome transport 20 The bluish-black discoloration of connective tissues seen in Alkaptonuria is known as: a Melanosis b Cyanosis c Ochronosis 21 Which vitamin is crucial for the treatment of approximately half of Homocystinuria cases, specifically those responsive to it? a Vitamin B6 b Vitamin B2 c Vitamin B1 22 The most common site for an acute gout attack (podagra) is the: a Hip joint b First metatarsophalangeal c Wrist joint 23 Which of the following is the most common neurological symptom observed in individuals with Hartnup disease? a Ataxia (unsteady gait) b Spasticity c Seizures 24 which metabolic pathway defect leads to accumulation of toxic metabolite Methylmalonic Acid? a Creatine and bile acids b Odd-chain fatty acids and the cholesterol side chain c Purines and pyrimidines 25 The megaloblastic anemia in Orotic Aciduria is caused by impaired synthesis of which key cellular components necessary for DNA replication? a Purine nucleotides b Pyrimidine nucleotides c Pyridoxal phosphate 26 The classical symptoms of Lesch-Nyhan Syndrome is? a Profound intellectual disability with aggressive outbursts b Severe phobias and anxiety attacks c Self-mutilating behavior 27 A positive ferric chloride test indicates: a Homocystinuria b Tyrosinemia c Phenylketonuria 28 Which of the following is a lysosomal storage disorder? a Gaucher disease b Galactosemia c Von Gierke disease 29 McArdle disease (GSD type V) affects: a Kidney b Brain c Muscle 30 Which of the following presents with "doll-like face" and severe fasting hypoglycemia? a McArdle disease b Von Gierke disease c Pompe disease 31 The accumulation of which amino acid is primarily responsible for neurotoxicity in MSUD? a Leucine b Tyrosine c Valine 32 Which vitamin may benefit patients with a milder form of MSUD? a Niacin b Thiamine (Vitamin B1) c Vitamin B6 33 Which crystal shape is typically seen in the urine of cystinuria patients? a Dumbbell-shaped b Needle-shaped c Hexagonal 34 Which drug can be used to help dissolve cystine stones in severe cases? a Penicillamine b Allopurinol c Methotrexate 35 Which of the following is the screening test for cystinuria? a Ferric chloride test b Guthrie test c Cyanide-nitroprusside test 36 Melanin is derived from which amino acid? a Phenylalanine b Tryptophan c Tyrosine 37 Which amino acid is a precursor for serotonin and melatonin? a Tryptophan b Histidine c Tyrosine 38 Refsum disease is characterized by accumulation of: a Phytanic acid b Sphingomyelin c Cholesterol 39 Which of the following triggers can precipitate an acute attack of porphyria? a Barbiturates and other CYP450 inducers b High carbohydrate intake c Vitamin supplementation 40 Which sugar alcohol accumulates in the lens leading to cataracts in galactosemia? a Mannitol b Sorbitol c Dulcitol

Inborn Errors of Metabolism Quiz

Froggy Jumps

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Inborn Errors of Metabolism QuizVersion en ligne

par Biochemistry department

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

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?

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

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

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

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

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

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

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

Which enzyme deficiency causes Gaucher Disease ?

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

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

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

Which enzyme deficiency is primarily responsible for Classic Galactosemia ?

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

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

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

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

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

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

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

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

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

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

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

The classical symptoms of Lesch-Nyhan Syndrome is?

A positive ferric chloride test indicates:

Which of the following is a lysosomal storage disorder?

McArdle disease (GSD type V) affects:

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

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

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

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

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

Which of the following is the screening test for cystinuria?

Melanin is derived from which amino acid?

Which amino acid is a precursor for serotonin and melatonin?

Refsum disease is characterized by accumulation of:

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

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