About Lysinuric protein intolerance

What is Lysinuric protein intolerance?

Lysinuric protein intolerance (LPI) is an inherited disorder that affects the body's ability to process certain proteins. People with LPI have difficulty breaking down and absorbing certain amino acids, which are the building blocks of proteins. This can lead to a buildup of these amino acids in the body, resulting in a variety of symptoms, including vomiting, diarrhea, poor growth, and liver and kidney problems.

What are the symptoms of Lysinuric protein intolerance?

The most common symptoms of Lysinuric Protein Intolerance (LPI) include:

-Gastrointestinal symptoms such as vomiting, diarrhea, and abdominal pain
-Failure to thrive
-Liver dysfunction
-Growth retardation
-Neurological symptoms such as seizures, ataxia, and developmental delay
-Respiratory symptoms such as recurrent infections and wheezing
-Skin rashes
-Kidney dysfunction
-Hypoglycemia
-Anemia
-Hyperammonemia

What are the causes of Lysinuric protein intolerance?

Lysinuric protein intolerance (LPI) is an inherited disorder caused by a deficiency of the enzyme lysinuric acid amino-peptidase (LAP). This enzyme is responsible for breaking down certain amino acids, including lysine, arginine, and ornithine. Without this enzyme, these amino acids accumulate in the body, leading to a variety of symptoms. The exact cause of LPI is unknown, but it is believed to be caused by a genetic mutation.

What are the treatments for Lysinuric protein intolerance?

1. Dietary management: The primary treatment for lysinuric protein intolerance is a low-protein diet. This diet should be tailored to the individual and should include foods that are low in lysine and other essential amino acids.

2. Supplementation: Supplementation with essential amino acids, such as lysine, may be necessary to ensure adequate nutrition.

3. Medication: Medications such as hydroxyurea and pentoxifylline may be used to reduce the amount of lysine in the body.

4. Liver transplant: In some cases, a liver transplant may be necessary to treat lysinuric protein intolerance.

What are the risk factors for Lysinuric protein intolerance?

1. Genetic predisposition: Lysinuric protein intolerance is caused by a genetic mutation in the SLC7A7 gene.

2. Age: The condition is more common in infants and young children.

3. Gender: Males are more likely to be affected than females.

4. Diet: Eating a diet high in protein can trigger symptoms.

5. Stress: Stress can worsen symptoms.

6. Infections: Certain infections can trigger symptoms.

Is there a cure/medications for Lysinuric protein intolerance?

There is no cure for lysinuric protein intolerance, but there are medications that can help manage the symptoms. These medications include drugs that reduce the absorption of proteins from the diet, such as l-carnitine and l-arginine, as well as drugs that reduce the production of lysine in the body, such as l-lysine and l-threonine. Additionally, a low-protein diet may be recommended to reduce the amount of lysine in the body.