Hartnup Syndrome Details

Expanded Description

Hartnup Syndrome is a rare autosomal recessive metabolic disorder affecting the absorption of neutral amino acids.

Prevalence

4.0 ( Per 100,000 Population ) [Source]

Causes

Hartnup Syndrome is caused by the defective transport of amino acids in the small intestine and kidneys. The onset is typically between age three and nine but may be present shortly after birth.

Disorder Symptoms

No symptom information has been added yet.

Name Description
Photosensitivity Redness or rashes after exposure to sunlight
Mental retardation Mental retardation
Diarrhea Diarrhea
Short stature Short stature

Diagnosis

Tests that indicate abnormal levels of amino acids may be used for diagnosis.

Diagnostic Tests

No diagnostic test information has been added yet.

We don't have any tests yet.

Disorder Treatments

Treatments typically involve supplements containing nicotinamide.

We don't have any treatments yet.

Prognosis

Typically people with Hartnup Syndrome live a normal lifespan with no disability.

Tips for Living with the Disorder

We don't have any tips yet.

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