About The Medical Condition Deficiencies, Muscle Phosphofructokinase
Find the definition of the medical term Deficiencies, Muscle Phosphofructokinase. Deficiencies, Muscle Phosphofructokinase defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Deficiencies, Muscle Phosphofructokinase
| Deficiencies, Muscle Phosphofructokinase Medical Condition |
|---|
What's The Definition Of The Medical Condition Deficiencies, Muscle Phosphofructokinase?
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
- Smooth Muscle Myosins ‐ Myosin type II isoforms found in…
- Barium Compounds ‐ Inorganic compounds that contain barium as an integral part of…
- Arabs ‐ Members of a Semitic people inhabiting the Arabian peninsula…
- Methyl Aspartylphenylalanine ‐ Flavoring agent sweeter than sugar, metabolized as phenylalanine…
- Comprehensive Dental Care ‐ Providing for the full range of dental health services for diagnosis,…
- Dicrocoelium dendriticum ‐ A genus of trematode liver flukes of the family Dicrocoeliidae…
- Hydrolases, Xylan ‐ A group of enzymes that catalyze the hydrolysis of alpha- or…
- Embryonic Antigen-1, Stage-Specific ‐ Carbohydrate antigen which is accumulated in various human cancer…
- Gene, sor ‐ DNA sequences that form the coding region for the vif (virion…
- Acetylcholine Agents ‐ Any drug used for its actions on cholinergic systems. Included…