Documenti di Didattica
Documenti di Professioni
Documenti di Cultura
Objective
Define Hartnups Disease
Normal metabolism of Tryptophan
Journal
Causative Gene
SLC6A19
Tryptophan =
1.
2.
3.
4.
3DS
DIMENTIA
DIARRHEA
DERMATITIS
Abnormal Absorption
Clinical Manifestation
Pellagra like skin rash
Ataxia
Renal aminoaciduria
Diarrhea
Mood changes
Nervous system (neurologic) problems
Photosensitivity
Diagnosis
Personal and Family History
Urinalysis
Haematological testing
Treatment
High protein diet
Physical and chemical protection from
sunlight
Avoid photosensitisizing drugs
Daily supplementation of nician or
nicotinamide.
Summary
Here, we report on a Korean boy, aged 8 years
and 5 months with Hartnup disorder, a
confirmed by SLC6A19 gene analysis. He
manifested seizures, attention deficit
hyperactivity disorder, and mental retardation
without pellagra or ataxia. Plasma amino acid
analysis and urine organic acid analysis
produced unremarkable results, but the urinary
amino acid analysis revealed increased levels
of multiple neutral amino acids.
Conclusion