A 13-year-old boy is brought to the office due to gait instability and pruritic skin rash for the past several weeks. His mother reports that he has also been irritable and had loose stools during this time. The patient's childhood development has been unremarkable except for several episodes of similar skin rash that resolved spontaneously. Examination shows scaly, erythematous skin lesions in sun-exposed areas and cerebellar ataxia. Laboratory evaluation shows increased levels of neutral amino acids in the urine. This patient's symptoms would most likely respond to which of the following supplements?

Question

A 13-year-old boy is brought to the office due to gait instability and pruritic skin rash for the past several weeks.  His mother reports that he has also been irritable and had loose stools during this time.  The patient's childhood development has been unremarkable except for several episodes of similar skin rash that resolved spontaneously.  Examination shows scaly, erythematous skin lesions in sun-exposed areas and cerebellar ataxia.  Laboratory evaluation shows increased levels of neutral amino acids in the urine.  This patient's symptoms would most likely respond to which of the following supplements?

Quizplus · Accepted Answer

Eductional Objective: Hartnup disease is caused by impaired transport of neutral amino acids in the small intestine and proximal tubule of the kidney. Symptoms include pellagra-like skin eruptions and cerebellar ataxia, which occur as a result of niacin deficiency. The diagnosis can be confirmed through detection of excessive amounts of neutral amino acids in the urine.

A 13-Year-Old Boy Is Brought to the Office Due to Gait