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Hartnups Disease

Objective
Define Hartnups Disease
Normal metabolism of Tryptophan
Journal

What is Hartnups Disease

Hartnup Disorder is an autosomal recessive


disorder caused by impaired neutral amino
acid transport in the apical brush border
membrane of the small intestine and the
proximal tubule of the kidney. It is
characterized by pellagra-like rash, ataxia
and psychotic behavior.

Causative Gene

SLC6A19
Tryptophan =
1.
2.
3.
4.

Niacinamide (VIT B3)

Pellagra like symptoms


Niacin Deficiency
Serotonin- ataxia
Melatonin- skin rashes

3DS
DIMENTIA
DIARRHEA
DERMATITIS

Normal Amino Acid


Metabolism

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.

Novel Mutation in SLC6A19


Causing Late-Onset Seizures
in Hartnup Disorder
Author: Chonk Kun Cheon MD, Beom Hee Lee
MD, Jung Min Ko MD, Hyun-Ji Kim MD and HanWook Yoo MD

Pediatric Neurology Vol 42 No. 5


2010

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.

The manifestation of Hartnup disorder can


vary, ranging from asymptomatic status to
pellagra-like skin rashes, cerebral ataxia,
psychotic behavior and mental and physical
retardation.
In 43 cases of Hartnup disorder reviewed by
Wilcken et al., 28 were reported to manifest
rash. In 7 cases, a rash was evident by the
time the patient was 1 year old. However, of
20 cases with ataxia, only 2 manifested this
sign before five years.

Mori et al. reported onset Hartnup disease


presenting with neuropsychiatric signs, but
without skin lesions. Thus, a diagnosis of
Hartnup disease is difficult to establish in
patience without signs such as pellagra-like
skin rash or with neurologic manifestation
alone, but it can be confirmed to according to
abnormal urinary amino acid profiles which
maybe evident in evaluations of underlying
metabolic disorder during neurologic
manifestations

The incidence of Hartnup disorder is


estimated at 1 at every 15,000 births.
In addition, tryptophan deficit, attributable
to decrease uptake from the intestines and
kidneys, leads to nicotinamide deficiency,
which is associated with pellagra.
Tryptophan deficiancy also causes
deficiencies of neurotransmitter such as
serotonin.

In addition, the bacterial degradation of tryptophan in


the intestines can be neurotoxic. The management of
Hartnup disorder consist of oral nicotinamide to relieve
skin manifestations, tryptophan to improve neurologic
deficits, and neomycin to inhibit the bacterial
degradation of tryptophan in the intestines.
Recommended that the patient avoid exposure to
ultraviolet light. Although the skin and neurologic
manifestations can disappear rapidly after the
introduction of these steps toward management, as
occurred in our patient, early diagnosis and
intervention are important to alleviate mental and
physical retardation.

Conclusion

In conclusion, we report on a Korean boy


with Hartnup disorder, the first Korean case
confirmed by the identification of mutations.
Considering its phenotypic heterogeneity
and the importance of early intervention,
Hartnup disorder should be included in the
differential diagnosis of children with
neurologic abnormalities of unknown origin.