About The Medical Condition Disease, Tarui
Find the definition of the medical term Disease, Tarui. Disease, Tarui defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Disease, Tarui
| Disease, Tarui Medical Condition |
|---|
What's The Definition Of The Medical Condition Disease, Tarui?
An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.
|
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
- Anchors, GPI Membrane ‐ Compounds containing carbohydrate or glycosyl groups linked to…
- Cryptococcal Meningitides ‐ Meningeal inflammation produced by CRYPTOCOCCUS NEOFORMANS, an…
- Sperm Transport ‐ Passive transport or active migration of spermatozoa from the…
- BM15.075 ‐ Antilipemic agent that lowers cholesterol and triglycerides.…
- Reconstituted Families ‐ A social group consisting of parents or parent substitutes and…
- Dimethyleneimines ‐ Saturated azacyclopropane compounds. Any substitutions on carbon…
- Intraarterial Infusions ‐ Regional infusion of drugs via an arterial catheter. Often a…
- Syndrome, Refsum-Thiebaut ‐ An autosomal recessive familial disorder that usually presents…
- Balloon Tamponades ‐ Nonoperative repair of occluded vessels, ducts, or valves by…
- Bronchopneumonia ‐ Acute inflammation of the walls of the smaller bronchial tubes,…