📂 Diseases
Hartnup disease — Definition
Hartnup hastalığı / Hartnup disease
Hartnup disease is a rare autozomal resessive metabolic disease, characterized by disorder in the absorption of neutral amino acids (especially triptofan) kidney tubules and fine intestine. Clinically, pellagra-like skin rashes, cerebels manifest themselves with apathy and psychiatric symptoms. The disease is caused by mutations in the SLC6A19 gene, and the diagnosis is put in the urine by showing increased neutral amino acid breakthrough. In the treatment, niacin supplement and high protein diet is recommended.
Disease Definition
🔬 Disease Definition
Hartnup hastalığı, nötral amino asitlerin (özellikle triptofan) renal tübüler ve intestinal taşınmasında bozuklukla karakterize, otozomal resesif geçişli bir metabolik hastalıktır.
🧬 Causes & Risk Factors
SLC6A19 genindeki mutasyonlar nedeniyle nötral amino asitlerin böbrek ve bağırsaktan emilimi bozulur.
🩺 Symptoms & Signs
Pellagra benzeri deri döküntüleri, nörolojik bulgular (ataksi, tremor, psikiyatrik belirtiler), büyüme geriliği, fotosensitivite.
📋 Diagnostic Methods
İdrarda nötral amino asitlerin (özellikle triptofan) artışı, plazma amino asit düzeylerinin normal veya düşük olması, klinik bulgular ve genetik test.
💊 Treatment Options
Yüksek proteinli diyet, niasin (nikotinik asit) takviyesi, güneşten korunma, nörolojik semptomlara yönelik destek tedavisi.
⚠️ Complications
Pellagra, nörolojik hasar, psikiyatrik bozukluklar, büyüme ve gelişme geriliği.
Frequently Asked Questions
❓ What is Hartnup hastalığı?
Hartnup hastalığı; hartnup disease is a rare autozomal resessive metabolic disease, characterized by disorder in the absorption of neutral amino acids (especially triptofan) kidney tubules and fine intestine. Clinically, pellagra-like skin rashes, cerebels manifest themselves with apathy and psychiatric symptoms. The disease is caused by mutations in the SLC6A19 gene, and the diagnosis is put in the urine by showing increased neutral amino acid breakthrough. In the treatment, niacin supplement and high protein diet is recommended.
❓ What is Hartnup disease in Turkish?
The Turkish equivalent of "Hartnup disease" is Hartnup hastalığı.
❓ Which medical field is Hartnup hastalığı related to?
This term belongs to the Diseases category.