In Hanup&;s disease ….. is excreted in the urine
Hartnup disease is an autosomal recessive disorder affecting the transport of neutral amino acids, leading to their excretion in urine. Classic symptoms include a rash, neurological issues, and aminoaciduria. If the question is about Hartnup disease, then the answer would be the excretion of neutral amino acids like tryptophan, phenylalanine, etc. But if it's another disease, like Hunter's, then the excretion would be mucopolysaccharides.
Wait, the user wrote "Hanup's disease" which might be a misspelling of Hartnup's. Let me check the correct answer provided. The correct answer is not listed here, but the user wants me to explain based on the correct answer they mentioned. Since the options are missing, maybe the correct answer is about the excretion of amino acids. Let me proceed under the assumption that the question is about Hartnup disease and the correct answer is the excretion of neutral amino acids.
So, the core concept here is Hartnup disease, which is a defect in the transport of neutral amino acids. The correct answer would be that neutral amino acids are excreted in the urine. The wrong options might include other substances like glucose, ketones, or mucopolysaccharides. I need to explain why each wrong option is incorrect. For example, glucose in urine is seen in diabetes, not Hartnup. Mucopolysaccharides are in mucopolysaccharidoses. Ketones would be in diabetes or starvation.
The clinical pearl would be to remember Hartnup's association with aminoaciduria and the classic "raspberry tongue" or other symptoms. The correct answer line would be the option stating neutral amino acids are excreted.
**Core Concept**
Hartnup disease is a rare autosomal recessive disorder caused by defective renal and intestinal transport of neutral amino acids (e.g., tryptophan, phenylalanine). This leads to their excessive excretion in urine and systemic manifestations like pellagra-like rash, ataxia, and psychiatric symptoms due to impaired serotonin and niacin synthesis.
**Why the Correct Answer is Right**
In Hartnup disease, mutations in the *SLC6A19* gene impair the sodium-dependent neutral amino acid transporter (B(0)AT1) in the proximal tubule and intestinal epithelium. This results in **neutral aminoaciduria**, including tryptophan, which is critical for niacin (vitamin B3) and serotonin biosynthesis. Urinary excretion of these amino acids is a hallmark diagnostic finding.
**Why Each Wrong Option is Incorrect**
**Option A:** *Glucose*β