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Abnormal muscle tissue enzyme activity or level
- ... molecule that supplies energy for cells' activities, including muscle contraction, and ... 5 enzyme activity and lead to higher levels of cAMP within cells, so they are described ...
- ... molecule that supplies energy for cells' activities, including muscle contraction, and cAMP is involved in ... This ...
- ... gene. Mutations in this gene significantly reduce the activity of acid ... the muscles, leading to progressive muscle weakness, heart problems, and ...
- ... alpha-hydroxylase. In the brain, a decrease in enzyme activity results in an accumulation of cholesterol and alters neurosteroid production triggered by oxysterol 7-alpha-hydroxylase. Abnormal levels of neurosteroids impairs cell survival, likely leading to ...
- ... liver function.In the brain, a decrease in enzyme activity results in an accumulation of cholesterol and alters neurosteroid production triggered by oxysterol 7-alpha-hydroxylase. Abnormal levels of neurosteroids impairs cell survival, likely leading to ...
- ... at the back of the eye (retina). This abnormal buildup causes the other signs and ... levels of mitochondrial trifunctional protein. Other mutations replace one ...
- ... pressure Muscle injury Muscle weakness and loss of muscle tissue ( muscular dystrophy ) New abnormal tissue formation (usually cancer) Pancreatitis Stroke Tissue death If your LDH level is high, your provider may recommend an LDH ...
- ... germs, marking them for destruction. The effect of abnormal levels of antibodies in PGM3-CDG is unclear.People with PGM3-CDG often have intellectual disability, delayed development, and weak muscle tone (hypotonia). Many affected individuals have skeletal abnormalities ...
- ... cellular stress (such as low oxygen levels or muscle exercise), when ATP is ... in controlling the activity of other genes, although many of these genes ...
- ... variants that cause tyrosine hydroxylase deficiency reduce the activity of ... to the abnormal movements and nervous system dysfunction seen in people ...