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HartnupDisease:Causes,Symptoms&Diagnosis

Hartnup Disease
Hartnup disease, also referred to as Hartnup disorder, is a hereditary metabolic disorder that makes it dicult
for your body to absorb certain amino acids from the intestine and to reabsorb these amino acids from the
kidney. Amino acids are essential...

What Is Hartnup Disease?

Hartnup disease, also referred to as Hartnup disorder, is a hereditary metabolic disorder that makes it dicult
for your body to absorb certain amino acids from the intestine and to reabsorb these amino acids from the
kidney. Amino acids are essential building blocks that are responsible for creating protein in the body. This
inherited condition is an autosomal recessive trait. This means that people who are born with the condition
have inherited a mutated gene from both parents.
The disease was named for the Hartnup family of England, who were looked at in a 1956 study of the disease
(Sekulovic, 2011). Four of eight family members were found to have excessive amounts of amino acids in their
urine, skin rash, and ataxia (lack of coordination of voluntary muscle movements). These signs and symptoms
are characteristic of Hartnup disease, which aects the skin and the brain.
Hartnup disease is a relatively rare disorder, occurring in one per 24,000 births in North America and Australia
(Sekulovic, 2011). Rare as it is, Hartnup disease may be the most common amino acid disorder in humans.
The condition normally begins to show symptoms in infancy or in the rst few years of a childs life. It causes
attacks of symptoms. The attacks last for about two weeks and the frequency of attacks decreases as the
child grows older.

What Causes Hartnup Disease?

The disease is caused by a mutation of the gene that controls the processes of amino acid absorption and
reabsorption. Scientists are not sure why the mutation occurs. If both parents carry the mutated gene, the
children will likely have Hartnup disease.
In healthy individuals, the body absorbs specic amino acids into the intestines and then reabsorbs them in
the kidneys. Individuals with Hartnup disease, on the other hand, cannot properly absorb certain amino acids
from the small intestine. They also cannot reabsorb these amino acids from the kidney. As a result, an
excessive amount of amino acids exits the body through urination, leaving the body with insucient amount
of these amino acids.
One of the amino acids aected by this condition is tryptophan, which is a building block for proteins and
vitamins. Without enough tryptophan, the body cannot produce enough of the B-complex vitamin niacin. A
niacin deciency is responsible for the sun-sensitive rash (called a pellagra rash) seen in patients with
Hartnup disease, and contributes to the dementia as well.

What Are the Symptoms of Hartnup Disease?

Symptoms of the disease particularly aect your brain and skin. The brain and skin require B-complex
vitamins to remain healthy and to function properly. Since patients with Hartnup disease are lacking in crucial
amino acids, the condition impedes protein production and can trigger specic mental and physical
symptoms, including:
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HartnupDisease:Causes,Symptoms&Diagnosis

short statue
sensitivity to light
an unsteady gait: described as a wide-based gait in which the patient walks with legs more spread apart
than is normally seen (it may resemble when some people who are drunk walk with a wide-based gait to
keep their balance)
anxiety
rapid mood swings
hallucinations
delusions
intention tremor
speech diculties
abnormalities in muscle tone: either muscles can become more tight (with increased resistance to stretch
which is spasticity or they can become hypotonic decreased tone)
A skin rash, usually resulting from exposure to sunlight, is a common symptom. The rash is an intermittent
red, scaly rash over the face, neck, hands and legs. Initially the rash is red but over time can progress to an
excematous-like rash. The skin changes can become permanent with changes in pigmentation of your skin
and with prolonged sun exposure
These symptoms may be triggered by sunlight, poor nutrition, the use of sulfonamide drugs, and emotional or
physical stress. Although symptoms usually appear in infancy or early childhood, they may appear later, in
early adulthood. Acute symptom attacks generally become less frequent as you get older.

How Is Hartnup Disease Diagnosed?

A urinalysis test (urine sample test) can measure the amount of amino acids excreted through your urine. If
there are high levels of neutral amino acids, this may be a sign of Hartnup disease. However, this test alone
isnt enough to diagnose Hartnup disease, so your doctor will also go over your personal and family medical
history. This includes discussing your symptoms, how frequently you have them, and when they rst began. A
blood test can also be used to check your levels of B vitamins, including niacin, to help conrm the diagnosis.

Treating Hartnup Disease

Treatment consists of a change in diet, avoidance of sunlight, and prescribing sulfonamide drugs (Adams &
Victor, 2012)

Dietary Changes
Consuming foods that contain the B-complex vitamin niacin can signicantly reduce your symptoms. Good
sources of niacin include:
meat
poultry
sh
fortied and whole grains
peanut butter
potatoes
Meat, poultry, sh, and peanuts are also excellent sources of protein. Choose lean meat and skinless poultry;
the fat and skin are high in saturated fat, which can cause high cholesterol.

Supplements
Your doctor may also suggest complementing your diet with B-complex or niacin vitamin supplements (such
as nicatonic acid). The supplement dosage will depend on the severity of your niacin deciency.
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Sun Avoidance
Additionally, it can be helpful to avoid direct exposure to the sun through the use of sunscreen and protective
clothing.

Long-Term Outlook
Complications are rare. However, it is possible to undergo changes in skin pigmentation, have trouble with
coordination of physical movements, or develop psychiatric problems as a result of this condition.
In most cases, people with Hartnup disease can live normal, healthy lives. However, in rare cases, people have
developed diseases of the nervous system. Nervous system conditions can be life threatening, but in most
cases they can be treated eectively.
References:
Adams, R. D., Victor, M., & Ropper, A. H. (2012).Principles of neurology(4th ed.). New York: McGraw-Hill,
Health Professions Division.
Hartnup Disease. (2006, Dec.). The Merck Manual. Retrieved June 17, 2012, from

http://www.merckmanuals.com/home/kidney_and_urinary_tract_disorders/tubular_and_cystic_kidney_disorders/hartnup_disease.h
Hartnup Disease. (n.d.). University of Oklahoma Health Sciences Center. Retrieved June 17, 2012, from
http://moon.ouhsc.edu/kfung/jty1/neurohelp/ZNF2IE02.htm
Hartnup Disorder. (n.d.). NY Times Health Information. Retrieved August 7, 2012, from
http://health.nytimes.com/health/guides/disease/hartnup-disorder/overview.html
Listing of Vitamins. (n.d.). Harvard Health Publications. Retrieved June 17, 2012, from
http://www.health.harvard.edu/newsweek/Listing_of_vitamins.htm
Sekulovic, Lidija Kandolf, M.D., PhD. (2011, August 16). Hartnup Disease. Medscape Reference. Retrieved
August 7, 2012, from http://emedicine.medscape.com/article/1115549-overview

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