Carnitine Deficiency (CD)
17:01 Posted by Ahmed Khalil
| Definition |
| one of a group of muscle diseases that interfere with the processing of fats for energy production |
| Cause |
| either a defect in a gene for a protein, such as the carnitine transporter OCTN2, that brings carnitine into the cell ("primary" carnitine deficiency); or a deficiency of carnitine secondary to other metabolic diseases ("secondary" carnitine deficiency) |
| Onset |
| infancy to early adulthood |
| Symptoms |
| if confined to muscles, weakness in the hips, shoulders, and upper arms and legs; face and tongue muscles may also be weak; heart muscle weakness may occur; in more severe cases, in which other tissues are affected, also includes low blood sugar, fatigue, vomiting, abdominal pain, growth retardation, low weight, enlarged liver, episodes of brain function abnormalities |
| Progression |
| usually slowly progressive |
| Inheritance |
| primary carnitine deficiency usually autosomal recessive, meaning caused by the contribution of a defective gene from each parent; secondary carnitine deficiency inheritance depends on primary cause |
0 comments:
Post a Comment