Aminoaciduria – Causes, Symptoms & Treatment


Aminoaciduria includes a number of diseases and metabolic disorders that lead to the excretion of amino acids in the end urine. It is usually a hyperaminoaciduria in which more than 5 percent of the amino acids that have been filtered into the primary urine via the renal corpuscles are not reabsorbed and can therefore be detected in the final urine. Aminoaciduria is an important symptom in several renal and metabolic diseases that are inherited or acquired.

What is aminoaciduria?

Aminoaciduria is the excretion of amino acids in the urine. Since healthy people also excrete up to five percent of the amino acids filtered into the primary urine, aminoaciduria is often equated with hyperaminoaciduria, in which more than five percent of the amino acids are not reabsorbed but are excreted in the final urine.

The excretion of the amino acids via the final urine is an expression and symptom of several different metabolic disorders . It is primary aminoaciduria when it is a genetic form of the disease and secondary aminoaciduria when the metabolic disorder is acquired. The impaired reabsorption can generally refer to all amino acids collected in the primary urine.

However, it is also possible that specific amino acids are affected, as in cystinuria, in which only the dibasic amino acids ornithine, arginine , lysine and cystine are affected. Short term aminoaciduria may be diet related due to excessive protein intake. It is a natural form of aminoaciduria that is self-regulating.


Several factors are known to be the cause of aminoaciduria or hyperaminoaciduria. These are mostly genetic metabolic diseases, each of which leads to one of the inherited forms of aminoaciduria. For example, autosomal recessive cystinuria is caused by an incorrectly encoded transmembrane transport protein.

The special transport protein normally ensures that the amino acid cystine and the other dibasic amino acids pass through the membrane of the tubular cells in the epithelial cells of the proximal tubular cells of the kidneys, which corresponds to the classic reabsorption. Rare hereditary fructose intolerance, another form of aminoaciduria, is also inherited in an autosomal recessive manner.

A genetic defect causes a deficiency of aldolase B in the liver, which means that when fructose accumulates, glycolysis is inhibited. Ultimately, this results in an intracellular lack of ATP, so that severe hypoglycemia (low blood sugar) occurs. The disease is accompanied by several symptoms, among which aminoaciduria is typically present.

Other inherited metabolic diseases are known in which aminoaciduria is the main symptom. The causes can relate to a transport protein for a certain class of amino acids or a required enzyme that is incorrectly coded due to a genetic defect and thus becomes inoperative. In some cases, interstitial kidney inflammation or liver dysfunction also leads to aminoaciduria.

Symptoms, Ailments & Signs

The symptoms and signs that accompany aminoaciduria vary and depend on the causal factors and thus on the metabolic processes involved. For example, inherited cystinuria is manifested by precipitation of the unabsorbed amino acid cystine in the urine, which tends to form urinary stones . About 50 percent of those affected develop urinary stones.

In the case of the rare inherited fructose intolerance, symptoms only occur after the intake of fructose. However, the symptoms can also occur after eating “regular” sucrose because the body breaks down the disaccharide into glucose and fructose. Typical symptoms are nausea , vomiting , sweating and amino aciduria.

Diagnosis & History

A general aminoaciduria can be detected by determining the concentration of amino acids in the final urine. If only certain amino acids are found in the urine, the finding facilitates further diagnosis. It is then usually one of the inherited metabolic disorders such as cystinuria, in which there is an accumulation of the amino acids cystine, ornithine, arginine and lysine in the urine.

The disease cannot be cured, but the further course can be influenced by drinking plenty of fluids, so that the formation of urinary stones is prevented as far as possible. The course of the disease depends on the causes and the behavior of those affected.


The complications and symptoms of aminoaciduria are very varied and for this reason cannot be assessed in general. However, there is always a disruption in the metabolic processes. In many cases, this disorder leads to the formation of urinary stones, for example.

Due to the urinary stones, the patient suffers from very strong pain and unpleasant feelings. Everyday life is extremely restricted by the aminoaciduria, it is usually no longer possible to pursue an activity. Often there are also vomiting, panic attacks or nausea with dizziness.

Aminoaciduria can also lead to the development of various allergies that have not previously occurred in the patient. The formation and treatment of urinary stones can be influenced relatively well by an increased intake of fluids. Here the patient must also strive for a healthy diet and lifestyle.

If an intolerance to fructose develops in the case of aminoaciduria, the affected person must do without it for the rest of his life. In this case there is no possibility of treatment. Life expectancy is usually hardly reduced, but depends heavily on the patient’s lifestyle.

When should you go to the doctor?

Aminoaciduria usually points to diseases of the kidneys or urinary tract. These diseases should always be examined and, if necessary, treated and removed by a doctor. In most cases, aminoaciduria leads to the formation of a urinary stone. This is associated with extremely severe pain in the patient, with urination in particular being significantly affected. For this reason, treatment must be carried out if there is sudden severe pain in the kidneys and ureters.

Not infrequently, patients also suffer from sweating, dizziness or vomiting. These symptoms can also indicate aminoaciduria. If the symptoms occur after the consumption of fructose, this intolerance must be determined by a doctor. In this case, the patient has to do without the ingredient. Treatment can generally start with a general practitioner if the person concerned is not sure about the symptoms or cannot exactly assign them to a disease. If the pain is acute, you should call an ambulance or go to the hospital.

Treatment & Therapy

Amino aciduria, which are based on genetically determined malfunctions of transport proteins or enzymes, cannot be treated causally. The primary goal in such diseases is seen in keeping the effects of aminoaciduria as low as possible. In the case of the cystinuria mentioned above, a daily fluid intake of up to four liters is necessary to prevent urinary stones.

Due to the high fluid intake, the urine is more or less diluted so that the poorly soluble cystine does not precipitate. In the case of fructose intolerance, only lifelong avoidance of fructose and sucrose is effective. If the aminoaciduria is caused by interstitial nephritis or impaired liver function, possible therapy is primarily aimed at treating the underlying disease. Aminoaciduria resolves on its own after the kidney inflammation (nephritis) has healed.

Outlook & Forecast

Aminoaciduria can cause various symptoms and complications in those affected. The further course of this disease depends heavily on other environmental factors, so that a general prediction is usually not possible. However, aminoaciduria can lead to the formation of urinary stones . These are associated with very severe pain and significantly reduce the patient’s quality of life. It can also lead to vomiting or nausea.

Those affected often also suffer from sweating and are thus significantly restricted in everyday life. Amino aciduria can also lead to the development of various allergies or intolerance. In some cases, fructose intolerance can also occur, so that the person concerned has to do without this ingredient for the rest of his life.

Unfortunately, it is not possible to treat the cause of aminoaciduria. For this reason, the effects and symptoms of this disease must be limited as much as possible. Kidney stones can be avoided above all by increasing fluid intake. It cannot generally be predicted whether life expectancy will be reduced as a result of aminoaciduria.


Any form of aminoaciduria is always the result of a primary disease or defect such as incorrectly encoded transport proteins or enzymes. There are therefore no direct preventive measures that could prevent aminoaciduria.

In principle, preventive measures should therefore be aimed at preventing the associated primary diseases or defects. However, this is not possible with most primary diseases because they are genetic primary defects. In principle, behaviors that prevent kidney inflammation and liver diseases are sensible.


In most cases, aminoaciduria indicates another inherited condition, so treatment of the underlying condition is the priority. However, it cannot generally be predicted whether this will lead to complete healing. In some cases, those affected also depend on lifelong therapy to alleviate the symptoms.

Aftercare options are therefore only available to those affected with aminoaciduria to a very limited extent. In general, a healthy lifestyle with a healthy diet has a positive effect on the course of the disease. The trigger for the aminoaciduria must also be found and further avoided.

In some cases, the patient has to avoid certain foods and ingredients in order to keep the symptoms to a minimum. In order to avoid the formation of kidney stones, a lot of liquid should be taken. Aminoaciduria may also reduce the patient’s life expectancy.

Food that has a high fructose content should be avoided at all costs. In the case of aminoaciduria, contact with other people affected by the disease can also prove useful, since this can lead to an exchange of information.

You can do that yourself

Aminoaciduria needs to be diagnosed and treated by a doctor. In addition to medical therapy, the symptoms can be alleviated by some home remedies and self-help measures.

First of all, the diet should be changed: foods with fructose and sucrose (juices, oranges and lemons , lentils , cane sugar, shortcrust pastry) are best avoided, while foods with a lot of amino acids (meat, fish, dairy products, eggs , quark , nuts) are eaten more should be.

In consultation with the doctor, the menu can be supplemented with food supplements containing amino acids. In addition, you should drink a lot . On the one hand, this promotes the metabolism and thus the digestive activity. On the other hand, urinary stones and other typical subsequent symptoms of aminoaciduria are prevented. Home remedies such as kombucha, corn tea or warm beer are also recommended against kidney semolina.

Proven remedies from nature include dried sea holly roots, marshmallow leaves or birch leaf tea. Various home remedies and medicinal plants also relieve side effects such as nausea, vomiting and sweating. Which means and preparations are useful in detail should be clarified with the doctor beforehand. Finally, a healthy lifestyle with plenty of exercise and enough sleep should be maintained to speed up the healing process.

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Hello! I am Lisa Newlon, and I am a medical writer and researcher with over 10 years of experience in the healthcare industry. I have a Master’s degree in Medicine, and my deep understanding of medical terminology, practices, and procedures has made me a trusted source of information in the medical world.