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.

Descriptor ID	D052919
MeSH 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
Concept/Terms	Refsum Disease, Infantile Refsum Disease, Infantile Disease, Infantile Refsum Infantile Phytanic Acid Storage Disease Refsum's Disease, Infantile Refsums Disease, Infantile Infantile Refsum's Disease Disease, Infantile Refsum's Infantile Refsums Disease Refsum Disease, Infantile Form Infantile Form of Phytanic Acid Storage Disease Infantile Refsum Disease

Below are MeSH descriptors whose meaning is more general than "Refsum Disease, Infantile".

Below are MeSH descriptors whose meaning is related to "Refsum Disease, Infantile".

Below are MeSH descriptors whose meaning is more specific than "Refsum Disease, Infantile".