Peroxisomal acyl-CoA oxidase 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
| Peroxisomal acyl-CoA oxidase deficiency : Peroxisomal acyl-CoA oxidase deficiency is a disorder that causes deterioration of nervous system functions (neurodegeneration) beginning in infancy. Newborns with peroxisomal acyl-CoA oxidase deficiency have weak muscle tone (hypotonia) and seizures. They may have unusual facial features, including widely spaced eyes (hypertelorism), a low nasal bridge, and low-set ears. Extra fingers or toes (polydactyly) or an enlarged liver (hepatomegaly) also occur in some affected individuals. Most babies with peroxisomal acyl-CoA oxidase deficiency learn to walk and begin speaking, but they experience a gradual loss of these skills (developmental regression), usually beginning between the ages of 1 and 3. As the condition gets worse, affected children develop exaggerated reflexes (hyperreflexia), increased muscle tone (hypertonia), more severe and recurrent seizures (epilepsy), and loss of vision and hearing. Most children with peroxisomal acyl-CoA oxidase deficiency do not survive past early childhood. | |
| Review Date: 01/02/2018 | Updated By: |