Alpha-methylacyl-CoA racemase 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
| Alpha-methylacyl-CoA racemase deficiency : Alpha-methylacyl-CoA racemase (AMACR) deficiency is a disorder that causes a variety of neurological problems that begin in adulthood and slowly get worse. People with AMACR deficiency may have a gradual loss in intellectual functioning (cognitive decline), seizures, and migraines. They may also have acute episodes of brain dysfunction (encephalopathy) similar to stroke, involving altered consciousness and areas of damage (lesions) in the brain. Other features of AMACR deficiency may include weakness and loss of sensation in the limbs due to nerve damage (sensorimotor neuropathy), muscle stiffness (spasticity), and difficulty coordinating movements (ataxia). Vision problems caused by deterioration of the light-sensitive layer at the back of the eye (the retina) can also occur in this disorder. | |
| Review Date: 01/12/2013 | Updated By: |