lunes, 30 de mayo de 2016

Hartnup disease - Genetics Home Reference

Hartnup disease - Genetics Home Reference

Genetics Home Reference, Your Guide to Understanding Genetic Conditions

05/25/2016 11:30 PM EDT


Source: National Library of Medicine - NIH
Related MedlinePlus Page: Metabolic Disorders
Genetics Home Reference, Your Guide to Understanding Genetic Conditions

Hartnup disease

Hartnup disease is a condition caused by the body's inability to absorb certain protein building blocks (amino acids) from the diet. As a result, affected individuals are not able to use these amino acids to produce other substances, such as vitamins and proteins. Most people with Hartnup disease are able to get the vitamins and other substances they need with a well-balanced diet.
People with Hartnup disease have high levels of various amino acids in their urine (aminoaciduria). For most affected individuals, this is the only sign of the condition. However, some people withHartnup disease have episodes during which they exhibit other signs, which can include skin rashes; difficulty coordinating movements (cerebellar ataxia); and psychiatric symptoms, such as depression or psychosis. These episodes are typically temporary and are often triggered by illness, stress, nutrient-poor diet, or fever. These features tend to go away once the trigger is remedied, although the aminoaciduria remains. In affected individuals, signs and symptoms most commonly occur in childhood.

Hartnup disease - Genetics Home Reference

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