Disorders of urea synthesis and amino acid transport

Ammonia detoxification is impaired in this group of six diseases (frequency: 1 in 8,500). Ammonia is a toxic substance that is usually converted to urea in the liver and excreted in the urine.

Ammonia accumulates in the blood of those affected. It primarily leads to impairment of the brain, which manifests itself in the form of cramps, neurological symptoms, mental development delays and disturbances of consciousness. Treatment is complex and involves a lifelong low-protein, high-calorie, high- carbohydrate diet and various medications.

transport disruptions

In cystinuria (not to be confused with cystinosis!), certain amino acids, especially cystine, cannot be transported through the small intestine cells and urinary canals. This inherited disease occurs in one in 10,000 children. The most important and usually the only symptom is recurring kidney stones since the corresponding amino acids accumulate in the urine and thus fail.

High fluid intake is often sufficient for treatment, significantly diluting the urine; otherwise, medication can be given.