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Treatment can be problematic: Barbiturates and primidone must be avoided as they commonly precipitate symptoms. [28] Some benzodiazepines are safe, and, when used in conjunction with newer anti-seizure medications such as gabapentin , offer a possible regimen for seizure control.
Some people with a metabolic myopathy never develop symptoms due to the body's ability to produce enough ATP through alternative pathways (e.g. the majority of those with AMP-deaminase deficiency are asymptomatic [1] [21]). H 2 O + ATP → H + + ADP + P i + energy → muscle contraction [22] ATP is needed for muscle contraction by two processes:
People who excessively consume alcohol are usually also malnourished with regard to minerals. In addition, alcohol treatment is associated with refeeding, which further depletes phosphate, and the stress of alcohol withdrawal may create respiratory alkalosis, which exacerbates hypophosphatemia (see above). [citation needed]
For reasons that are not understood, many people with defective variants of the AMPD genes are asymptomatic, while others have symptoms including exercise intolerance, and/or muscle pain and cramping. [1] Fatigue. MADD lowers aerobic power output, so increased anaerobic power is needed to perform the same amount of work. [citation needed]
Research shows that up to 60% of the weight loss from prescription medications may come from lean body mass. Muscle loss can affect strength and mobility, so eating enough protein to preserve lean ...
Leigh syndrome (also called Leigh disease and subacute necrotizing encephalomyelopathy) is an inherited neurometabolic disorder that affects the central nervous system.It is named after Archibald Denis Leigh, a British neuropsychiatrist who first described the condition in 1951. [2]
[4] [12] Naturally, the most metabolically active organs in a person will be affected by this ATP deficiency. Included in these metabolically active organs is the cochlear stria vascularis . [ 2 ] The stria vascularis and the hair cells , both essential to sound transduction, make use of ion pumps to regulate the concentration of ions including ...
Carnitine palmitoyltransferase II deficiency, sometimes shortened to CPT-II or CPT2, is an autosomal recessively inherited genetic metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for utilization as an energy source.