Histidinemia is an inherited disorder caused by a deficiency of the enzyme histidase. This enzyme is responsible for breaking down the amino acid histidine, which is found in many foods. People with histidinemia are unable to break down histidine, leading to a buildup of the amino acid in the body. Symptoms of histidinemia can include mental retardation, seizures, and behavioral problems. Treatment typically involves a low-histidine diet and supplementation with other amino acids.

The symptoms of Histidinemia vary from person to person, but may include:

-Developmental delays
-Intellectual disability
-Seizures
-Behavioral problems
-Growth delays
-Feeding difficulties
-Poor muscle tone
-Hearing loss
-Vision problems
-Liver and kidney problems
-Heart defects
-Skin rashes
-Frequent infections
-Abnormal blood tests

Histidinemia is caused by a genetic mutation in the gene that codes for the enzyme histidase. This enzyme is responsible for breaking down the amino acid histidine, which is found in many foods. Without the enzyme, histidine builds up in the body, leading to the symptoms of histidinemia.

The primary treatment for histidinemia is dietary management. This involves avoiding foods that are high in histidine, such as fish, poultry, and certain nuts and seeds. It is also important to ensure that the diet is balanced and contains adequate amounts of other essential amino acids. In some cases, supplementation with other amino acids may be necessary. In severe cases, medications such as hydroxyurea may be prescribed to reduce the levels of histidine in the body.

1. Genetic inheritance: Histidinemia is an inherited disorder caused by mutations in the HPD gene.

2. Ethnicity: Histidinemia is more common in people of Ashkenazi Jewish descent.

3. Age: Histidinemia is more common in infants and young children.

4. Diet: A diet low in histidine can increase the risk of developing histidinemia.

At this time, there is no cure for histidinemia. However, there are medications available to help manage the symptoms. These medications include anticonvulsants, anti-inflammatory drugs, and vitamins. Additionally, dietary modifications may be recommended to help reduce the symptoms.