Hartnup's disease Save

Hartnup's Disease: Symptoms, Causes, and Diagnosis

Hartnup's disease is a rare genetic disorder that affects the absorption of certain amino acids in the body. It is an autosomal recessive disorder, which means that a person must inherit two copies of the defective gene, one from each parent, to develop the condition.

The disease is named after the Hartnup family, who were the first to describe it in the 1950s. It is estimated to affect 1 in 30,000 people worldwide, and it is more common in certain populations, such as the Druze community in Israel.

Symptoms of Hartnup's Disease

The symptoms of Hartnup's disease can vary from person to person, and they can be mild or severe. Some of the common symptoms include:

1. Photosensitivity
2. Dermatitis
3. Ataxia
4. Psychiatric symptoms
5. Delayed growth and development

Photosensitivity is the most common symptom of Hartnup's disease. It is a skin reaction to sunlight that can cause a rash or hives. Dermatitis is another skin symptom that can occur, which causes redness, itching, and scaling of the skin.

Ataxia is a neurological symptom that can cause problems with balance and coordination. Psychiatric symptoms, such as anxiety and depression, can also occur in some people with Hartnup's disease. Delayed growth and development can occur in children with the condition.

Causes of Hartnup's Disease

Hartnup's disease is caused by a mutation in the SLC6A19 gene, which provides instructions for making a protein that helps transport amino acids in the body. This mutation affects the absorption of certain amino acids, such as tryptophan, which can lead to a deficiency of these nutrients in the body.

Tryptophan is an essential amino acid that is important for the production of serotonin, a neurotransmitter that regulates mood, appetite, and sleep. A deficiency of tryptophan can lead to psychiatric symptoms, such as anxiety and depression, as well as other symptoms, such as photosensitivity and dermatitis.

Diagnosis of Hartnup's Disease

Hartnup's disease is diagnosed through a combination of clinical evaluation, laboratory testing, and genetic testing. A doctor may perform a skin biopsy to evaluate the skin symptoms, as well as blood and urine tests to measure the levels of amino acids in the body.

Genetic testing can also be used to confirm the diagnosis of Hartnup's disease by identifying the specific