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Refsum Disease, Infantile MeSH Descriptor Data 2025


MeSH Heading
Refsum Disease, Infantile
Tree Number(s)
C10.228.140.163.100.844
C16.320.565.189.844
C16.320.565.663.865
C18.452.132.100.844
C18.452.648.189.844
C18.452.648.663.865
Unique ID
D052919
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D052919
Annotation
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.
Entry Version
REFSUM DIS INFANTILE
Entry Term(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
Previous Indexing
Peroxisomal Disorders (1998-2006)
Refsum Disease (1986-2006)
Public MeSH Note
2007; see PEROXISOMAL DISORDERS 1996-2006
History Note
2007; use PEROXISOMAL DISORDERS 1996-2006
Date Established
2007/01/01
Date of Entry
2006/07/05
Revision Date
2015/06/08
Refsum Disease, Infantile Preferred
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