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Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Refsum Disease, Infantile
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Refsum Disease, Infantile
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Refsum Disease, Infantile
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Refsum Disease, Infantile
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Peroxisomal Disorders > Refsum Disease, Infantile
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Peroxisomal Disorders > Refsum Disease, Infantile

Terme préférentiel

Refsum Disease, Infantile  

Type

  • mesh:Descriptor

Définition

  • An early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of REFSUM DISEASE. Features include MENTAL RETARDATION; SENSORINEURAL HEARING LOSS; OSTEOPOROSIS; and severe liver damage. It can be caused by mutation in a number of genes encoding proteins involving in the biogenesis or assembly of PEROXISOMES.

Concept générique

Synonyme(s)

  • Infantile Form of Phytanic Acid Storage Disease
  • Infantile Phytanic Acid Storage Disease
  • Infantile Refsum Disease
  • Infantile Refsum's Disease
  • Refsum Disease, Infantile Form
  • Refsum's Disease, Infantile

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-QSV8SCLW-L

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RDF/XML TURTLE JSON-LD Date de création 05/07/2006, dernière modification le 08/06/2015