Arginase deficiency
Acesse agora, gratuitamente, o National Institutes of Health e consulte, com o suporte da inteligência artificial do ProtoMedi, informações técnicas detalhadas sobre este e outros medicamentos. Obtenha respostas rápidas e confiáveis sobre interações, indicações e precauções — no momento em que você mais precisa
Dados do National Institutes of Health
| Arginase deficiency : Arginase deficiency is an inherited disorder that causes the amino acid arginine (a building block of proteins) and ammonia to accumulate gradually in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Arginase deficiency usually becomes evident by about the age of 3. It most often appears as stiffness, especially in the legs, caused by abnormal tensing of the muscles (spasticity). Other symptoms may include slower than normal growth, developmental delays and eventual loss of developmental milestones, intellectual disabilities, seizures, tremors, and difficulty with balance and coordination (ataxia). Occasionally, high-protein meals or stress caused by illness or periods without food (fasting) may cause ammonia to accumulate more quickly in the blood. This rapid increase in ammonia may lead to episodes of irritability, refusal to eat, and vomiting. In some affected individuals, the signs and symptoms of arginase deficiency may be less severe and may not appear until later in life. | |
| Review Date: 13/02/2024 | Updated By: |