Structured Summary
Abstract
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.
MeSH Record
Classification
Broader headings
Related Concepts
Knowledge Graph
Drag nodes to rearrange; hover to trace links; click a node to open its page.
MeSH Record
Synonyms
10 entry terms
- Infantile Form of Phytanic Acid Storage Disease
- Infantile Phytanic Acid Storage Disease
- Infantile Refsum's Disease
- Refsum Disease, Infantile
- Refsum Disease, Infantile Form
- Refsum's Disease, Infantile
- Disease, Infantile Refsum
- Disease, Infantile Refsum's
- Infantile Refsums Disease
- Refsums Disease, Infantile
MeSH Record
Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
MeSH Record
Indexing Annotation
do not confuse with REFSUM DISEASE
MeSH Record
History Note
2007; use PEROXISOMAL DISORDERS 1996-2006
MeSH Record
Previous Indexing
- Peroxisomal Disorders (1998-2006)
- Refsum Disease (1986-2006)
MeSH Hierarchy
Tree Numbers
AMA Style
References
- National Library of Medicine. Infantile Refsum Disease. Medical Subject Headings (MeSH). 2026. Unique ID D052919. http://id.nlm.nih.gov/mesh/2026/D052919
- Infantile Refsum Disease. In: Wikipedia. https://en.wikipedia.org/wiki/Infantile_Refsum_disease
- Infantile Refsum Disease. In: Wikidata. https://www.wikidata.org/wiki/Q55346072