About Iminoglycinuria

What is Iminoglycinuria?

Iminoglycinuria is an inherited disorder that affects the kidneys. It is caused by a deficiency of the enzyme iminoglycinuria, which is responsible for breaking down certain amino acids. People with this disorder have difficulty breaking down certain amino acids, which can lead to an accumulation of these substances in the body. Symptoms of iminoglycinuria include poor growth, mental retardation, and kidney problems.

What are the symptoms of Iminoglycinuria?

The symptoms of Iminoglycinuria include:

-Frequent urinary tract infections
-Abdominal pain
-Nausea and vomiting
-Diarrhea
-Fatigue
-Weight loss
-Muscle cramps
-Weakness
-Dehydration
-High levels of amino acids in the urine

What are the causes of Iminoglycinuria?

Iminoglycinuria is a rare inherited disorder caused by a genetic mutation in the SLC36A2 gene. This gene provides instructions for making a protein called proton-coupled amino acid transporter 2 (PCAT2). PCAT2 is responsible for transporting certain amino acids, including imino acids, across the cell membrane. Mutations in the SLC36A2 gene reduce the amount of PCAT2 available, leading to an inability to transport imino acids, resulting in iminoglycinuria.

What are the treatments for Iminoglycinuria?

1. Dietary modifications: A low-protein diet is recommended for people with iminoglycinuria. This means limiting the amount of protein-rich foods such as meat, fish, eggs, dairy, and legumes.

2. Supplementation: Supplementation with amino acids can help to replace the missing amino acids in the diet.

3. Medication: Medications such as penicillamine and captopril can be used to reduce the amount of amino acids in the urine.

4. Dialysis: In severe cases, dialysis may be necessary to remove the excess amino acids from the body.

What are the risk factors for Iminoglycinuria?

1. Genetic predisposition: Iminoglycinuria is an inherited disorder caused by mutations in the SLC36A1 gene.

2. Age: Iminoglycinuria is more common in children and adolescents.

3. Diet: A diet high in protein can increase the risk of developing iminoglycinuria.

4. Medications: Certain medications, such as antibiotics, can increase the risk of developing iminoglycinuria.

5. Kidney disease: People with kidney disease are more likely to develop iminoglycinuria.

Is there a cure/medications for Iminoglycinuria?

Iminoglycinuria is a rare genetic disorder that affects the kidneys and is caused by a deficiency of the enzyme iminoglycinuria. There is currently no cure for this disorder, but medications can be used to help manage the symptoms. These medications include diuretics, antibiotics, and other medications to help reduce the amount of protein in the urine. Additionally, dietary changes and lifestyle modifications may be recommended to help manage the symptoms.