What is Aminoaciduria?

Aminoaciduria is a disorder characterized by the presence of excess free amino acids in the urine. It is also known as renal aminoaciduria or amino aciduria. It is a rare disorder that is usually caused by the failure of the kidney to properly reabsorb these free amino acids. In some cases, there may also be a genetic defect that leads to improper absorption.

Types of Aminoaciduria

Aminoaciduria is classified into two types: isolated and combined. Isolated aminoaciduria is an isolated abnormality in the reabsorption of the free amino acids and is not associated with any other metabolic or kidney disorder. Combined aminoaciduria is an extension of another disorder, such as phenylketonuria, cystinuria, or homocystinuria.

Symptoms of Aminoaciduria

Symptoms of aminoaciduria include fatigue, headaches, and increased levels of nitrogen in the blood. In some cases, individuals may experience seizures, delayed development, and vision problems. These symptoms can vary greatly depending on the type of disorder and the amount of free amino acids found in the urine.

Diagnosis of Aminoaciduria

Aminoaciduria can be diagnosed through a urine test, which will identify the presence of free amino acids in the urine. Additionally, a blood test may be done to determine the levels of nitrogen in the blood. In some cases, a genetic test may be done to determine the presence of any genetic defect. Depending on the type of disorder, additional tests may be necessary.

Treatment of Aminoaciduria

Treatment for aminoaciduria can vary depending on the type and severity of the disorder, but it generally involves a combination of dietary restrictions, medications, and lifestyle modifications. Dietary restrictions involve avoiding foods high in the free amino acids associated with the disorder. For example, individuals with cystinuria should avoid foods high in cysteine. Medications may include diuretics to remove excess free amino acids from the urine, and corticosteroids such as prednisone to reduce inflammation. Finally, lifestyle changes such as increasing water intake and avoiding stress can be helpful in managing the disorder.

Risks for Aminoaciduria

The risks for aminoaciduria include delayed development, vision problems, and seizures. Additionally, individuals with this disorder have an increased risk of kidney failure and other kidney-related complications. The risk of developing complications can be reduced by following a proper diet and taking medications as prescribed.

Why Aminoaciduria is important?

Aminoaciduria is important because it is a rare disorder that can cause serious health complications if left untreated. Early diagnosis and treatment of aminoaciduria can help prevent these complications and improve the quality of life of those affected.

When is Aminoaciduria?

Aminoaciduria can be present at any age, but it appears to be most common in infants and younger children. It is a rare disorder, so there is no definite answer as to why it occurs in some individuals and not others.