Wednesday, November 22, 2017

Hartnup disease.. disorder in the metabolism of "Tryptophan" leads to acid deficiency nicotinic

Hartnup disease:
Is a disturbance in the metabolism of "tryptophan" leads to "nicotinic acid" deficiency.
The changes begin early in childhood due to the non-absorbent tryptophan that breaks down in the intestine to the "indole", which absorbs, metabolizes and excretes in the urine.
Clinical manifestations:
* Skin manifestations:
- Palagra is similar to the appearance of a dry rash and clear borderline on the areas exposed to the sun.
- Photodynamic sensitivity.
* Neurological manifestations:
- Inhalation and mental retardation.
- In the clinical picture the eruption of pseudoplegra neurological manifestations, ataxia and mental retardation.
- Urinary Urinary Examination Increased in "Andicans" and the only amino acid Carboxyllase.
- Nicotinamide.
- Treatment of skin manifestations with oily skin and localization of salicylic acid at the base of the ointment only or in combination with the steroids (Locasalene).
- Sunscreens avoid extreme exposure to sunlight.