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Adenosine monophosphate deaminase deficiency type 1 or AMPD1, is a human metabolic disorder in which the body consistently lacks the enzyme AMP deaminase, [1] in sufficient quantities. This may result in exercise intolerance, muscle pain and muscle cramping. The disease was formerly known as myoadenylate deaminase deficiency (MADD).
ERT has also been used to treat patients with severe combined immunodeficiency (SCID) resulting from an adenosine deaminase deficiency . [2] Other treatment options for patients with enzyme or protein deficiencies include substrate reduction therapy, gene therapy, and bone-marrow derived stem cell transplantation. [1] [3] [4]
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:
The symptoms of exercise intolerance, abnormal muscle fatigue, myalgia (muscle pain), arrhythmia, possible fixed proximal muscle weakness, lipid deposits, possible episodes of rhabdomyolysis, with symptoms becoming evident or worsening while fasting, during a fever, during low-intensity aerobic activity or after prolonged activity–all these ...
Symptoms may include weakness, trouble breathing, and loss of appetite. [1] Complications may include seizures, coma, rhabdomyolysis, or softening of the bones. [1] Causes include alcohol use disorder, refeeding in those with malnutrition, recovery from diabetic ketoacidosis, burns, hyperventilation, and certain medications. [1]
About 30% of the world has a more severe form of iron deficiency anemia, and we know iron deficiency anemia can result in tiredness and fatigue and weakness, and decreased immunity.
l-DOPA can be manufactured and in its pure form is sold as a drug with the INN Tooltip International Nonproprietary Name levodopa. Trade names include Sinemet, Pharmacopa, Atamet, and Stalevo. As a drug, it is used in the clinical treatment of Parkinson's disease and dopamine-responsive dystonia. l-DOPA has a counterpart with opposite chirality ...
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.