Carnosinemia is a rare genetic disorder that affects the body's ability to break down the amino acid carnosine. It is caused by a deficiency of the enzyme carnosinase, which is responsible for breaking down carnosine. Symptoms of carnosinemia can include seizures, intellectual disability, and movement disorders.

The symptoms of Carnosinemia vary depending on the type of the disorder. Common symptoms include:

-Developmental delay
-Seizures
-Intellectual disability
-Movement disorders
-Feeding difficulties
-Growth retardation
-Hearing loss
-Vision problems
-Behavioral problems
-Muscle weakness
-Hypotonia
-Liver and kidney problems
-Heart defects
-Skin abnormalities

Carnosinemia is a rare genetic disorder caused by mutations in the CNDP1 gene. This gene provides instructions for making an enzyme called carnosinase, which is responsible for breaking down the amino acid carnosine. When this enzyme is not functioning properly, carnosine builds up in the body, leading to the signs and symptoms of carnosinemia.

The primary treatment for Carnosinemia is dietary management. This includes avoiding foods that are high in carnosine, such as red meat, poultry, fish, and dairy products. Additionally, a low-protein diet may be recommended to reduce the amount of carnosine in the body.

Other treatments may include supplementation with carnosine precursors, such as taurine and beta-alanine, as well as carnosine-degrading enzymes. In some cases, medications such as anticonvulsants may be prescribed to help control seizures. In severe cases, a liver transplant may be necessary.

The primary risk factor for Carnosinemia is a genetic mutation in the CNDP1 gene. This gene is responsible for producing an enzyme called carnosinase, which is responsible for breaking down the amino acid carnosine. Mutations in this gene can lead to a buildup of carnosine in the body, resulting in Carnosinemia. Other risk factors include family history of the disorder, as it is inherited in an autosomal recessive pattern.

At this time, there is no cure for Carnosinemia. However, there are medications that can help manage the symptoms of the disorder. These medications include anticonvulsants, muscle relaxants, and medications to help with sleep. Additionally, dietary modifications and physical therapy may be recommended to help manage the symptoms.