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Case:Dr. Johnson is evaluating a 4-month-old infant, Lily, who has been showing developmental delays and unusual behavioral issues. Lilys parents are concerned because she has had a history of feeding difficulties and has not met developmental milestones expected for her age. After a thorough clinical evaluation, Dr. Johnson suspects a metabolic disorder.To confirm the diagnosis, Dr. Johnson orders a series of tests, including a urine analysis. The results reveal elevated levels of phenylpyruvic acid and other related compounds in Lilys urine. Genetic testing shows that Lily has inherited a specific autosomal recessive disorder that results in a deficiency of an enzyme responsible for converting phenylalanine into tyrosine.Based on Lilys case, which of the following statements correctly describes the metabolic disorder she is likely to have?a)The disorder involves a deficiency of the enzyme phenylalanine hydroxylase, leading to the accumulation of phenylalanine and its derivatives, which results in mental retardation and elevated phenylpyruvic acid in urine.b)The disorder is caused by a deficiency of the enzyme tyrosinase, leading to the accumulation of tyrosine and its derivatives, which results in mental retardation and elevated tyrosine levels in urine.c)The disorder involves a deficiency of the enzyme branched-chain ketoacid dehydrogenase, leading to the accumulation of leucine and its derivatives, which results in developmental delays and elevated leucine levels in urine.d)The disorder is due to a deficiency of the enzyme galactose-1-phosphate uridyl transferase, leading to the accumulation of galactose-1-phosphate and its derivatives, which results in jaundice and elevated galactose levels in urine.Correct answer is option 'A'. Can you explain this answer? for NEET 2024 is part of NEET preparation. The Question and answers have been prepared according to the NEET exam syllabus. Information about Case:Dr. Johnson is evaluating a 4-month-old infant, Lily, who has been showing developmental delays and unusual behavioral issues. Lilys parents are concerned because she has had a history of feeding difficulties and has not met developmental milestones expected for her age. After a thorough clinical evaluation, Dr. Johnson suspects a metabolic disorder.To confirm the diagnosis, Dr. Johnson orders a series of tests, including a urine analysis. The results reveal elevated levels of phenylpyruvic acid and other related compounds in Lilys urine. Genetic testing shows that Lily has inherited a specific autosomal recessive disorder that results in a deficiency of an enzyme responsible for converting phenylalanine into tyrosine.Based on Lilys case, which of the following statements correctly describes the metabolic disorder she is likely to have?a)The disorder involves a deficiency of the enzyme phenylalanine hydroxylase, leading to the accumulation of phenylalanine and its derivatives, which results in mental retardation and elevated phenylpyruvic acid in urine.b)The disorder is caused by a deficiency of the enzyme tyrosinase, leading to the accumulation of tyrosine and its derivatives, which results in mental retardation and elevated tyrosine levels in urine.c)The disorder involves a deficiency of the enzyme branched-chain ketoacid dehydrogenase, leading to the accumulation of leucine and its derivatives, which results in developmental delays and elevated leucine levels in urine.d)The disorder is due to a deficiency of the enzyme galactose-1-phosphate uridyl transferase, leading to the accumulation of galactose-1-phosphate and its derivatives, which results in jaundice and elevated galactose levels in urine.Correct answer is option 'A'. Can you explain this answer? covers all topics & solutions for NEET 2024 Exam. Find important definitions, questions, meanings, examples, exercises and tests below for Case:Dr. Johnson is evaluating a 4-month-old infant, Lily, who has been showing developmental delays and unusual behavioral issues. Lilys parents are concerned because she has had a history of feeding difficulties and has not met developmental milestones expected for her age. After a thorough clinical evaluation, Dr. Johnson suspects a metabolic disorder.To confirm the diagnosis, Dr. Johnson orders a series of tests, including a urine analysis. The results reveal elevated levels of phenylpyruvic acid and other related compounds in Lilys urine. Genetic testing shows that Lily has inherited a specific autosomal recessive disorder that results in a deficiency of an enzyme responsible for converting phenylalanine into tyrosine.Based on Lilys case, which of the following statements correctly describes the metabolic disorder she is likely to have?a)The disorder involves a deficiency of the enzyme phenylalanine hydroxylase, leading to the accumulation of phenylalanine and its derivatives, which results in mental retardation and elevated phenylpyruvic acid in urine.b)The disorder is caused by a deficiency of the enzyme tyrosinase, leading to the accumulation of tyrosine and its derivatives, which results in mental retardation and elevated tyrosine levels in urine.c)The disorder involves a deficiency of the enzyme branched-chain ketoacid dehydrogenase, leading to the accumulation of leucine and its derivatives, which results in developmental delays and elevated leucine levels in urine.d)The disorder is due to a deficiency of the enzyme galactose-1-phosphate uridyl transferase, leading to the accumulation of galactose-1-phosphate and its derivatives, which results in jaundice and elevated galactose levels in urine.Correct answer is option 'A'. Can you explain this answer?.

Solutions for Case:Dr. Johnson is evaluating a 4-month-old infant, Lily, who has been showing developmental delays and unusual behavioral issues. Lilys parents are concerned because she has had a history of feeding difficulties and has not met developmental milestones expected for her age. After a thorough clinical evaluation, Dr. Johnson suspects a metabolic disorder.To confirm the diagnosis, Dr. Johnson orders a series of tests, including a urine analysis. The results reveal elevated levels of phenylpyruvic acid and other related compounds in Lilys urine. Genetic testing shows that Lily has inherited a specific autosomal recessive disorder that results in a deficiency of an enzyme responsible for converting phenylalanine into tyrosine.Based on Lilys case, which of the following statements correctly describes the metabolic disorder she is likely to have?a)The disorder involves a deficiency of the enzyme phenylalanine hydroxylase, leading to the accumulation of phenylalanine and its derivatives, which results in mental retardation and elevated phenylpyruvic acid in urine.b)The disorder is caused by a deficiency of the enzyme tyrosinase, leading to the accumulation of tyrosine and its derivatives, which results in mental retardation and elevated tyrosine levels in urine.c)The disorder involves a deficiency of the enzyme branched-chain ketoacid dehydrogenase, leading to the accumulation of leucine and its derivatives, which results in developmental delays and elevated leucine levels in urine.d)The disorder is due to a deficiency of the enzyme galactose-1-phosphate uridyl transferase, leading to the accumulation of galactose-1-phosphate and its derivatives, which results in jaundice and elevated galactose levels in urine.Correct answer is option 'A'. Can you explain this answer? in English & in Hindi are available as part of our courses for NEET. Download more important topics, notes, lectures and mock test series for NEET Exam by signing up for free.

Here you can find the meaning of Case:Dr. Johnson is evaluating a 4-month-old infant, Lily, who has been showing developmental delays and unusual behavioral issues. Lilys parents are concerned because she has had a history of feeding difficulties and has not met developmental milestones expected for her age. After a thorough clinical evaluation, Dr. Johnson suspects a metabolic disorder.To confirm the diagnosis, Dr. Johnson orders a series of tests, including a urine analysis. The results reveal elevated levels of phenylpyruvic acid and other related compounds in Lilys urine. Genetic testing shows that Lily has inherited a specific autosomal recessive disorder that results in a deficiency of an enzyme responsible for converting phenylalanine into tyrosine.Based on Lilys case, which of the following statements correctly describes the metabolic disorder she is likely to have?a)The disorder involves a deficiency of the enzyme phenylalanine hydroxylase, leading to the accumulation of phenylalanine and its derivatives, which results in mental retardation and elevated phenylpyruvic acid in urine.b)The disorder is caused by a deficiency of the enzyme tyrosinase, leading to the accumulation of tyrosine and its derivatives, which results in mental retardation and elevated tyrosine levels in urine.c)The disorder involves a deficiency of the enzyme branched-chain ketoacid dehydrogenase, leading to the accumulation of leucine and its derivatives, which results in developmental delays and elevated leucine levels in urine.d)The disorder is due to a deficiency of the enzyme galactose-1-phosphate uridyl transferase, leading to the accumulation of galactose-1-phosphate and its derivatives, which results in jaundice and elevated galactose levels in urine.Correct answer is option 'A'. Can you explain this answer? defined & explained in the simplest way possible. Besides giving the explanation of Case:Dr. Johnson is evaluating a 4-month-old infant, Lily, who has been showing developmental delays and unusual behavioral issues. Lilys parents are concerned because she has had a history of feeding difficulties and has not met developmental milestones expected for her age. After a thorough clinical evaluation, Dr. Johnson suspects a metabolic disorder.To confirm the diagnosis, Dr. Johnson orders a series of tests, including a urine analysis. The results reveal elevated levels of phenylpyruvic acid and other related compounds in Lilys urine. Genetic testing shows that Lily has inherited a specific autosomal recessive disorder that results in a deficiency of an enzyme responsible for converting phenylalanine into tyrosine.Based on Lilys case, which of the following statements correctly describes the metabolic disorder she is likely to have?a)The disorder involves a deficiency of the enzyme phenylalanine hydroxylase, leading to the accumulation of phenylalanine and its derivatives, which results in mental retardation and elevated phenylpyruvic acid in urine.b)The disorder is caused by a deficiency of the enzyme tyrosinase, leading to the accumulation of tyrosine and its derivatives, which results in mental retardation and elevated tyrosine levels in urine.c)The disorder involves a deficiency of the enzyme branched-chain ketoacid dehydrogenase, leading to the accumulation of leucine and its derivatives, which results in developmental delays and elevated leucine levels in urine.d)The disorder is due to a deficiency of the enzyme galactose-1-phosphate uridyl transferase, leading to the accumulation of galactose-1-phosphate and its derivatives, which results in jaundice and elevated galactose levels in urine.Correct answer is option 'A'. Can you explain this answer?, a detailed solution for Case:Dr. Johnson is evaluating a 4-month-old infant, Lily, who has been showing developmental delays and unusual behavioral issues. Lilys parents are concerned because she has had a history of feeding difficulties and has not met developmental milestones expected for her age. After a thorough clinical evaluation, Dr. Johnson suspects a metabolic disorder.To confirm the diagnosis, Dr. Johnson orders a series of tests, including a urine analysis. The results reveal elevated levels of phenylpyruvic acid and other related compounds in Lilys urine. Genetic testing shows that Lily has inherited a specific autosomal recessive disorder that results in a deficiency of an enzyme responsible for converting phenylalanine into tyrosine.Based on Lilys case, which of the following statements correctly describes the metabolic disorder she is likely to have?a)The disorder involves a deficiency of the enzyme phenylalanine hydroxylase, leading to the accumulation of phenylalanine and its derivatives, which results in mental retardation and elevated phenylpyruvic acid in urine.b)The disorder is caused by a deficiency of the enzyme tyrosinase, leading to the accumulation of tyrosine and its derivatives, which results in mental retardation and elevated tyrosine levels in urine.c)The disorder involves a deficiency of the enzyme branched-chain ketoacid dehydrogenase, leading to the accumulation of leucine and its derivatives, which results in developmental delays and elevated leucine levels in urine.d)The disorder is due to a deficiency of the enzyme galactose-1-phosphate uridyl transferase, leading to the accumulation of galactose-1-phosphate and its derivatives, which results in jaundice and elevated galactose levels in urine.Correct answer is option 'A'. Can you explain this answer? has been provided alongside types of Case:Dr. Johnson is evaluating a 4-month-old infant, Lily, who has been showing developmental delays and unusual behavioral issues. Lilys parents are concerned because she has had a history of feeding difficulties and has not met developmental milestones expected for her age. After a thorough clinical evaluation, Dr. Johnson suspects a metabolic disorder.To confirm the diagnosis, Dr. Johnson orders a series of tests, including a urine analysis. The results reveal elevated levels of phenylpyruvic acid and other related compounds in Lilys urine. Genetic testing shows that Lily has inherited a specific autosomal recessive disorder that results in a deficiency of an enzyme responsible for converting phenylalanine into tyrosine.Based on Lilys case, which of the following statements correctly describes the metabolic disorder she is likely to have?a)The disorder involves a deficiency of the enzyme phenylalanine hydroxylase, leading to the accumulation of phenylalanine and its derivatives, which results in mental retardation and elevated phenylpyruvic acid in urine.b)The disorder is caused by a deficiency of the enzyme tyrosinase, leading to the accumulation of tyrosine and its derivatives, which results in mental retardation and elevated tyrosine levels in urine.c)The disorder involves a deficiency of the enzyme branched-chain ketoacid dehydrogenase, leading to the accumulation of leucine and its derivatives, which results in developmental delays and elevated leucine levels in urine.d)The disorder is due to a deficiency of the enzyme galactose-1-phosphate uridyl transferase, leading to the accumulation of galactose-1-phosphate and its derivatives, which results in jaundice and elevated galactose levels in urine.Correct answer is option 'A'. Can you explain this answer? theory, EduRev gives you an ample number of questions to practice Case:Dr. Johnson is evaluating a 4-month-old infant, Lily, who has been showing developmental delays and unusual behavioral issues. Lilys parents are concerned because she has had a history of feeding difficulties and has not met developmental milestones expected for her age. After a thorough clinical evaluation, Dr. Johnson suspects a metabolic disorder.To confirm the diagnosis, Dr. Johnson orders a series of tests, including a urine analysis. The results reveal elevated levels of phenylpyruvic acid and other related compounds in Lilys urine. Genetic testing shows that Lily has inherited a specific autosomal recessive disorder that results in a deficiency of an enzyme responsible for converting phenylalanine into tyrosine.Based on Lilys case, which of the following statements correctly describes the metabolic disorder she is likely to have?a)The disorder involves a deficiency of the enzyme phenylalanine hydroxylase, leading to the accumulation of phenylalanine and its derivatives, which results in mental retardation and elevated phenylpyruvic acid in urine.b)The disorder is caused by a deficiency of the enzyme tyrosinase, leading to the accumulation of tyrosine and its derivatives, which results in mental retardation and elevated tyrosine levels in urine.c)The disorder involves a deficiency of the enzyme branched-chain ketoacid dehydrogenase, leading to the accumulation of leucine and its derivatives, which results in developmental delays and elevated leucine levels in urine.d)The disorder is due to a deficiency of the enzyme galactose-1-phosphate uridyl transferase, leading to the accumulation of galactose-1-phosphate and its derivatives, which results in jaundice and elevated galactose levels in urine.Correct answer is option 'A'. 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