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
- Teaching, Remedial ‐ Specialized instruction for students deviating from the expected…
- Tetracemate ‐ A chelating agent (CHELATING AGENTS) that sequesters a variety…
- Ductal Carcinomas ‐ An invasive (infiltrating) carcinoma of the breast. This carcinoma…
- Record, Hospital ‐ Compilations of data on hospital activities and programs; excludes…
- Sodium Ion Channels ‐ Cell membrane glycoproteins selective for sodium ions. Fast sodium…
- Relation, Centric ‐ The location of the maxillary and the mandibular condyles when…
- Pattern, Feeding ‐ Behavioral responses or sequences associated with eating including…
- Rhamnose ‐ A methylpentose whose L- isomer is found naturally in many plant…
- Dexon-S ‐ A biocompatible polymer used as a surgical suture…
- Interferon Alfa-2c, Recombinant ‐ A recombinant alfa interferon consisting of 165 amino acids with…