amino acid transport

In this group of six diseases (frequency: 1 : 8,500), ammonia detoxification is impaired. Ammonia is a toxic substance that is normally converted to urea in the liver and excreted in the urine. In affected individuals, ammonia accumulates in the blood and leads primarily to brain impairment manifested by seizures, neurological symptoms, mental developmental delay … Disorders of Urea Synthesis and Amino Acid Transport