Hartnup Disease-Symptoms, Causes, Treatment

Hartnup disease is a serious physical condition which should not be neglected. If you suspect that you or anyone in your family is suffering from the disease, immediate medical attention should be obtained. This conditions is categorized as an autosomal recessive condition related to metabolism and hinders the supply of neutral; amino- acids to the gut as well as kidney. The condition was first discovered as well as described in London in the year 1956. It was recorded that 4 out of 8 members were afflicted. There are other neutral amino acids such as tryptophan which are not absorbed by the small intestine. These acids are transformed into indolic compounds by the gut bacteria, and these converted compounds prove to be harmful to the CNS. Due to the condition even the renal tubular channel is hindered and leads to gross aminoaciduria. The entire phenomenon of aminoacid loss as well as poor absorption leads to deficiency of protein or protein malnutrition. Moreover, unusual tryptophan flow causes deficiency of niacin and causes pellagra.

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Frequency of Hartnup Disease:

It is studied that this conditions is amongst the rarely reported conditions. It is a seldom autosomal recessive disease that is reported just 1 individual in 24,000 individuals. The condition may affect both men and women equally. However, it is one of the most common aminoaciduria related disorders.

Presentation of Hartnup disease

• There is a broad clinical spectrum for Hartnup disease; however, most cases of the disease is asymptotic

• The disease may show intermittent symptoms but the conditions may get exacerbated due to:

o Sudden change or fluctuations in season such as extreme heat during spring or summer in the northern hemisphere

o Illness with feverish or febrile feeling

o Inappropriate supply of nutrients to the body

o Augmented physical activities

o Sulfonamides

• Strangely, a study conducted in North America as well as Australia, indicates that over 40% of unconnected Hartnup diseases cases depicted the same mutation, this mutation may have originated from a common ancestor approximately 1000 years ago. It is said that perhaps the allele persisted through such a long course of time, may be because of failure to truncate or cease the amino acid transporter.

• Other study depicts clinical heterogeneity at least in some parts.

• Augmented compositional difference may also have ecological causes such as the degree of protein in diet.

Hartnup disease Symptoms:

In some cases the Hartnup disease symptoms may be noticed during infancy; however, in most cases the symptoms are seen after 3 to 9 years from the affliction of disease. It should be known that symptoms are infrequent an irregular.

• Neurological as well as dermatological issues may be experienced in episodic manner which may progress within few days and last for weeks and months before reduction.

• Skin issues may be noticed even before occurrence of neurological factors.

• There are some psychological symptoms that may include, worry, mood swings, emotional unsteadiness, etc. in rare cases a Hartnup disease patient may also suffer from psychosis and delirium.

Some decisive signs of Hartnup disease:


• A person may also suffer from photosensitivity and redness of skin may be notice when direct it comes under direct exposure to sunlight. Consistent exposure to sunlight may cause dryness of skin, scaly skin and well define prominent eruptions on the skin which resembles to chronic condition of eczema. These eruptions can be noticed around forehead, neck, cheek, forearms and other light exposed regions of the body.

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• You may also experience lesion on the face which may seem similar to butterfly like rashes noticed in the condition of lupus erythematosus.

• Alterations to skin lead to permanent or chronic hypopigmentation as well as hyperpigmentations which may become worse with consistent exposure to sunlight.

• Under the influence of Hartnup disease the mental progress is usually normal but in some cases learning difficulties with IQ level 50 to 70 is reported.

• There are also some neurological symptoms experienced under Hartnup disease. These symptoms can be completely reversed. Some such symptoms are:

o Irregular cerebellar ataxia

o Spasticity

o Tremor or shudders

o Postponed motor growth

o Wide based gait

o Head pain

o Hypotonia

• You may also noticed ocular difficulties such as diplopia, photophobia, involuntary eye movement and strabismus

• In some cases Diarrhea is also occasionally explained as a formidable sign of the disease

Treatment for Hartnup disease:

There are several treatment techniques for Hartnup disease. Some of the common treatment techniques are as follows:

• Doctor may suggest the patient a strategized diet rich in proteins. This helps in coping and managing with the deficiency of neutral amino acid in the Hartnup affected individual. The disease may have higher influence on patients with poor nutrition and the patient may experience more frequent attacks. However, in other cases the disease is asymptotic.

• It is advised to people who experience skin related symptoms associated with the disease to take precaution and seek protection against sunlight. One can use lotions, sunscreen or may use physical shelter such as umbrellas etc. It is essential to avoid excessive exposure to sunlight and wear protective clothes. While selecting a sunscreen ensure it provides skin protection factor or SPF of up to 15v or greater.

• The patient afflicted with Hartnup disease should also strictly avoid other stimulating factors, like use of photosensitizing medications.

• Doctors may suggest daily recommended dose of nicotinic acid or nicotinamide supplements. This will help in reducing the frequency of attacks in patient with Hartnup disease with niacin deficiency.

• People who experience serious CNS issues should undergo treatment under neurologist and psychiatrist.

Diagnosis of Hartnup disease:

Prevalence of Hartnup disease can be learned by looking at the aforementioned symptoms. Since, in most cases the disease is asymptomatic (or even if symptoms are experienced) it may become necessary to undergo diagnosis to confirm the prevalence of the disease. Hartnup diagnosis is carried usually by learning the amino acid absorption ability of kidney from intestine. Doctors also learn the degree of tryptophan in the blood, as deficient tryptophan in the blood makes it difficult for the body to make required degree of niacinamide (B complex vitamin).

It should be remembered that any physical abnormalities should be treated well. Even in case of Hartnup disease it is essential to seek immediate medical attention to avoid further health abnormalities.

Hartnup  Disease Pictures

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