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

Preferred term

Refsum Disease, Infantile  

Type

  • Topical Descriptor

Broader concept

Entry terms

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

Note

  • do not confuse with REFSUM DISEASE

Scope note

  • 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.

History note

  • 2007; use PEROXISOMAL DISORDERS 1996-2006

In other languages

URI

http://www.yso.fi/onto/mesh/D052919

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