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Homocystinuria: Quiz


Question 1: Those who do not respond require a low ________ diet, and most will need treatment with trimethylglycine.
MethionineGlutamic acidCysteineAlanine

Question 2: Homocystinuria represents a group of hereditary metabolic disorders characterized by an accumulation of ________ in the serum and an increased excretion of homocysteine in the urine.
HomocysteineGlycineSerineS-Adenosyl methionine

Question 3: Homocystinuria, also known as Cystathionine beta synthase deficiency or CBS deficiency,[1] is an inherited disorder of the metabolism of the ________ methionine, often involving cystathionine beta synthase.
Amino acid synthesisAsparaginaseL-DOPAAmino acid

Question 4: It is an inherited ________, which means a child needs to inherit the defective gene from both parents to be affected.
ChromosomeAlleleDominance (genetics)Genetics

Question 5: This defect leads to a multisystemic disorder of the connective tissue, muscles, CNS, and ________.
Circulatory systemHeartFetal circulationMyocardial infarction


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