About The Medical Condition Muscle Phosphofructokinase Deficiency
Find the definition of the medical term Muscle Phosphofructokinase Deficiency. Muscle Phosphofructokinase Deficiency defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Muscle Phosphofructokinase Deficiency
| Muscle Phosphofructokinase Deficiency Medical Condition |
|---|
What's The Definition Of The Medical Condition Muscle Phosphofructokinase Deficiency?
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
- Woman Rights ‐ The rights of women to equal status pertaining to social, economic,…
- Neurotheceomas ‐ A benign myxoma of cutaneous nerve sheath origin. Theke is from…
- Atrial Natriuretic Factor Receptors ‐ Cell surface proteins that bind atrial natriuretic factor with…
- Estrone, (+-)-Isomer ‐ A metabolite of estradiol but possessing less biological activity.…
- Television ‐ The transmission and reproduction of transient images of fixed…
- Abnormalities, Musculoskeletal ‐ Congenital structural abnormalities and deformities of the musculoskeletal…
- Juvenile Periodontitis ‐ Localized periodontitis in teenagers and young adults. The onset…
- Mammoplasties ‐ Surgical reconstruction of the breast including both augmentation…
- Gamma-Tocopherol ‐ A natural tocopherol with less antioxidant activity than ALPHA-TOCOPHEROL.…
- PGE1 ‐ A potent vasodilator agent that increases peripheral blood flow.…