Define Hartnups Disease

Normal metabolism of Tryptophan

Journal
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.
SLC6A19
Tryptophan = Niacinamide (VIT B3)

1. Pellagra like symptoms
2. Niacin Deficiency
3. Serotonin- ataxia
4. Melatonin- skin rashes

DIMENTIA
DIARRHEA
DERMATITIS
Pellagra like skin rash
Ataxia
Renal aminoaciduria
Diarrhea
Mood changes
Nervous system (neurologic) problems
Photosensitivity
Personal and Family History
Urinalysis
Haematological testing
High protein diet
Physical and chemical protection from
sunlight
Avoid photosensitisizing drugs
Daily supplementation of nician or
nicotinamide.
Author: Chonk Kun Cheon MD, Beom Hee Lee
MD, Jung Min Ko MD, Hyun-Ji Kim MD and Han-
Wook Yoo MD

Pediatric Neurology Vol 42 No. 5
2010

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.


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.