Rare Diseases Symptoms Automatic Extraction

Inherited disorders of fatty alcohol metabolism.

[neonatal adrenoleukodystrophy]

The importance of long-chain aliphatic alcohols to human biology has recently been emphasized by the discovery of several inborn errors of fatty alcohol metabolism. These inherited diseases include isolated defects in the oxidation of fatty alcohol to fatty acid (Sjögren-Larsson syndrome) and deficient incorporation of fatty alcohol into ether lipids (isolated alkyl dihydroxyacetone phosphate synthase deficiency). In addition, disorders of peroxisomal biogenesis (Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease) and peroxisomal protein import (rhizomelic chondrodysplasia punctata) have impaired ether lipid synthesis along with other associated defects in peroxisomal metabolism. All of the inherited disorders of fatty alcohol metabolism are associated with severe neurologic disease, but the contribution of tissue fatty alcohol accumulation to the pathogenesis is not clear. Molecular genetic studies have recently identified many of the disease-causing mutations in these disorders, which should lead to more accurate diagnosis and genetic counseling. Although prenatal diagnosis offers a method for preventing these genetic diseases, no effective therapy exists to alleviate the symptoms.

Diseases presenting "which should lead to more accurate diagnosis and genetic counseling" symptom

  • neonatal adrenoleukodystrophy

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