Histidinuria-renal tubular defect syndrome is a rare genetic disorder characterized by the inability of the kidneys to properly reabsorb the amino acid histidine. This leads to an accumulation of histidine in the urine, which can cause a variety of symptoms including mental retardation, seizures, and growth retardation. Treatment typically involves dietary modifications to reduce histidine intake and supplementation with other essential amino acids.

The symptoms of Histidinuria-renal tubular defect syndrome include:

-Growth retardation
-Developmental delay
-Mental retardation
-Seizures
-Feeding difficulties
-Vomiting
-Diarrhea
-Dehydration
-High levels of histidine in the urine
-High levels of ammonia in the blood
-Kidney stones
-Kidney failure
-Liver dysfunction
-Abnormalities in the eyes, ears, and heart

Histidinuria-renal tubular defect syndrome is caused by a genetic mutation in the SLC6A19 gene, which is responsible for the production of the protein B0AT1. This protein is responsible for the transport of histidine, an amino acid, across the renal tubules. When the protein is not functioning properly, histidine accumulates in the urine, leading to the condition known as histidinuria-renal tubular defect syndrome.

The primary treatment for Histidinuria-renal tubular defect syndrome is dietary management. This involves avoiding foods that are high in histidine, such as fish, poultry, and eggs. Additionally, a low-protein diet may be recommended to reduce the amount of histidine in the body. Other treatments may include supplementation with vitamins and minerals, as well as medications to reduce the amount of histidine in the urine. In some cases, dialysis may be necessary to remove excess histidine from the body.

1. Genetic mutation in the SLC3A1 gene
2. Family history of the disorder
3. Exposure to certain environmental toxins
4. Certain medications
5. Premature birth
6. Low birth weight
7. Exposure to certain infections during pregnancy

At this time, there is no known cure for Histidinuria-renal tubular defect syndrome. However, there are medications that can help manage the symptoms of the condition. These medications include diuretics, which help reduce the amount of histidine in the urine, and medications that help reduce the amount of protein in the urine. Additionally, dietary changes may be recommended to help reduce the amount of histidine in the diet.