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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).
Mitochondrial myopathies are types of myopathies associated with mitochondrial disease. [1] Adenosine triphosphate (), the chemical used to provide energy for the cell, cannot be produced sufficiently by oxidative phosphorylation when the mitochondrion is either damaged or missing necessary enzymes or transport proteins.
Causes include alcohol use disorder, refeeding in those with malnutrition, recovery from diabetic ketoacidosis, burns, hyperventilation, and certain medications. [1] It may also occur in the setting of hyperparathyroidism , hypothyroidism , and Cushing syndrome . [ 1 ]
[2] [3] [4] Adenylyl cyclase activity is controlled by heterotrimeric G proteins. [2] [3] [4] The inactive or inhibitory form exists when the complex consists of alpha, beta, and gamma subunits, with GDP bound to the alpha subunit. [2] [4] In order to become active, a ligand must bind to the receptor and cause a conformational change. [2]
The creatine phosphate system is needed for the storage and transmission of phosphate-bound energy in the brain and muscle. The brain and muscle have particularly high metabolic demands, therefore, making creatine a necessary molecule in ATP homeostasis.
The other necessary substrate, from which the phosphate is derived, is adenosine triphosphate (ATP), which is converted to adenosine diphosphate (ADP) when the phosphate is removed. The reaction catalyzed by glucokinase is shown in the inset. ATP participates in the reaction in a form complexed to magnesium (Mg) as a cofactor.
Ornithine transcarbamylase deficiency also known as OTC deficiency is the most common urea cycle disorder in humans. Ornithine transcarbamylase , the defective enzyme in this disorder, is the final enzyme in the proximal portion of the urea cycle , responsible for converting carbamoyl phosphate and ornithine into citrulline .
Oxidative phosphorylation (UK / ɒ k ˈ s ɪ d. ə. t ɪ v /, US / ˈ ɑː k. s ɪ ˌ d eɪ. t ɪ v / [1]) or electron transport-linked phosphorylation or terminal oxidation is the metabolic pathway in which cells use enzymes to oxidize nutrients, thereby releasing chemical energy in order to produce adenosine triphosphate (ATP).