About Hartnup Disease

What is Hartnup Disease?

Hartnup Disease is an inherited disorder that affects the body's ability to absorb certain amino acids from food. It is caused by a defect in the transport of certain amino acids across the small intestine and kidneys. Symptoms of Hartnup Disease include skin rashes, poor growth, mental confusion, and seizures. Treatment typically involves dietary changes and supplementation with certain amino acids.

What are the symptoms of Hartnup Disease?

The symptoms of Hartnup Disease include:

-Poor growth and development

-Skin rashes

-Behavioral changes

-Seizures

-Mental retardation

-Impaired coordination

-Impaired vision

-Impaired hearing

-Impaired speech

-Impaired balance

-Impaired memory

-Impaired concentration

-Impaired judgment

-Impaired motor skills

-Impaired coordination

-Impaired social skills

-Impaired language skills

-Impaired intellectual functioning

-Impaired coordination of voluntary movements

-Impaired ability to recognize objects

-Impaired ability to recognize faces

-Impaired ability to recognize colors

-Impaired ability to recognize shapes

-Impaired

What are the causes of Hartnup Disease?

Hartnup Disease is caused by a genetic mutation in the SLC6A19 gene, which is responsible for the transport of certain amino acids across the small intestine and kidney. This mutation results in an inability to absorb certain amino acids, leading to a deficiency of these essential nutrients in the body.

What are the treatments for Hartnup Disease?

The primary treatment for Hartnup Disease is dietary supplementation with tryptophan and niacin. This helps to replenish the body's stores of these essential nutrients. Other treatments may include vitamin B6 supplementation, zinc supplementation, and the use of medications such as 5-hydroxytryptophan (5-HTP) and serotonin reuptake inhibitors (SSRIs). In some cases, a low-protein diet may be recommended.

What are the risk factors for Hartnup Disease?

1. Genetic predisposition: Hartnup Disease is an autosomal recessive disorder, meaning that it is passed down from both parents to their child.

2. Diet: A diet low in tryptophan, an essential amino acid, can increase the risk of developing Hartnup Disease.

3. Environmental factors: Exposure to certain environmental toxins, such as pesticides, can increase the risk of developing Hartnup Disease.

4. Age: Hartnup Disease is more common in children and young adults.

Is there a cure/medications for Hartnup Disease?

There is no cure for Hartnup Disease, but medications can be used to manage the symptoms. These medications include niacin, tryptophan, and other amino acids. Additionally, dietary changes may be recommended to help manage the symptoms.