Інші порушення жирового обміну
Disease (OMIM Number) | Defective Proteins or Enzymes | Comments |
|---|---|---|
Sjögren-Larsson syndrome (270200*) | Fatty aldehyde dehydrogenase | Biochemical profile: No readily detectable plasma or urinary abnormality Clinical features: Ichthyosis, intellectual disability, spastic diplegia or tetraplegia, retinopathy, seizures Treatment: Symptomatic; topical keratolytics or systemic retinoids, reduced long-chain fat and increased medium-chain triglycerides in diet |
* For complete gene, molecular, and chromosomal location information, see the Online Mendelian Inheritance in Man (OMIM) database. | ||
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