About The Medical Condition Infantile Refsum Disease
Find the definition of the medical term Infantile Refsum Disease. Infantile Refsum Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Infantile Refsum Disease
| Infantile Refsum Disease Medical Condition |
|---|
What's The Definition Of The Medical Condition Infantile Refsum Disease?
A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; infantile Refsum disease; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders.
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- Limit Dextrinosis ‐ An autosomal recessive metabolic disorder due to deficient expression…
- Deductibles and Coinsurance ‐ Cost-sharing mechanisms that provide for payment by the insured…
- Sequence Analysis ‐ A multistage process that includes the determination of a sequence…
- Cell Death, Programmed ‐ One of the two mechanisms by which CELL DEATH occurs (the other…
- Hemispatial Neglect ‐ Cognitive disorders characterized by an impaired ability to perceive…
- Deficiency, IgA ‐ A dysgammaglobulinemia characterized by a deficiency of IMMUNOGLOBULIN…
- Platelet Adhesiveness ‐ The process whereby platelets adhere to something other than…
- Carcinomas, Anaplastic ‐ A malignant neoplasm made up of epithelial cells tending to infiltrate…
- Joint Prosthesis Implantations ‐ Partial or total replacement…
- Identity Disorder, Dissociative ‐ A dissociative disorder in which the individual adopts two or…