An autosomal recessive inherited metabolic disorder caused by mutations in the SLC6A19 gene. It is characterized by defective absorption of neutral amino acids. Signs and symptoms include skin eruptions reminiscent of pellagra, aminoaciduria, and cerebellar ataxia.
Symptoms of Hartnup's disease
The following features are indicative of Hartnup's disease:
failure to thrive
photosensitivity
intermittent ataxia
nystagmus
tremor
skin rashes
depression
impaired muscle coordination (ataxia)
an unsteady walk (gait)
impaired articulation of speech (dysarthria)
increased muscle tone
stiffness of the muscles
confusion
anxiety
delusions
hallucinations
short stature
diplopia
nystagmus
ptosis
It is possible that Hartnup's disease shows no physical symptoms and still is present in a patient.
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Common Causes of Hartnup's disease
The following are the most common causes of Hartnup's disease:
mutations in the SLC6A19 gene (Solute carrier family 6 member 19)
Risk Factors for Hartnup's disease
The following factors may increase the likelihood of Hartnup's disease:
stress
fever
poor nutrition
exposure to sunlight
Prevention of Hartnup's disease
Yes, it may be possible to prevent Hartnup's disease. Prevention may be possible by doing the following:
avoid excessive exposure to sunlight
wear protective clothing
use chemical sunscreens with an SPF of 15 or greater
avoid photosensitizing drugs
Occurrence of Hartnup's disease
Number of Cases
The following are the number of Hartnup's disease cases seen each year worldwide:
Very rare between 1K - 10K cases
Common Age Group
Hartnup's disease most commonly occurs in the following age group:
Aged between 3-9 years
Common Gender
Hartnup's disease can occur in any gender.
Lab Tests and Procedures for Diagnosis of Hartnup's disease
The following lab tests and procedures are used to detect Hartnup's disease:
Molecular genetic testing: To detect genetic mutation in the SLC19A6 gene
Complications of Hartnup's disease if untreated
It is not know if Hartnup's disease causes complications if left untreated.
Self-care for Hartnup's disease
The following self-care actions or lifestyle changes may help in the treatment or management of Hartnup's disease:
maintaining good nutrition
take high protein diet
avoid excess exposure the sun
avoid certain drugs like sulphonamide drugs
Patient Support for Treatment of Hartnup's disease
The following actions may help Hartnup's disease patients:
Genetic counselling: To provide help for affected families
Last updated date
This page was last updated on 2/04/2019.
This page provides information for Hartnup's disease.