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・ Mitochondrial myopathy
・ Mitochondrial neurogastrointestinal encephalopathy syndrome
・ Mitochondrial optic neuropathies
・ Mitochondrial permeability transition pore
・ Mitochondrial processing peptidase
・ Mitochondrial protein-transporting ATPase
・ Mitochondrial pyruvate carrier 2
・ Mitochondrial ribosomal death-associated protein 3
・ Mitochondrial ribosomal protein L41
・ Mitochondrial ribosomal protein L42
・ Mitochondrial ROS
・ Mitochondrial shuttle
・ Mitochondrial toxicity
・ Mitochondrial translational release factor 1
・ Mitochondrial trifunctional protein
Mitochondrial trifunctional protein deficiency
・ Mitochondrial tRNA pseudouridine27/28 synthase
・ Mitochondrion
・ Mitochondrion (band)
・ Mitocu Dragomirnei
・ Mitocu River
・ Mitoferrin-1
・ Mitogaku
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・ Mitogen-activated protein kinase
・ Mitogen-activated protein kinase 9
・ Mitogen-activated protein kinase kinase
・ Mitoguazone
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・ Mitoizumi Masayuki


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Mitochondrial trifunctional protein deficiency : ウィキペディア英語版
Mitochondrial trifunctional protein deficiency

Mitochondrial trifunctional protein deficiency is an autosomal recessive fatty acid oxidation disorder that prevents the body from converting certain fats to energy, particularly during periods without food . People with this disorder have inadequate levels of an enzyme that breaks down a certain group of fats called long-chain fatty acids.
==Signs and symptoms==

Signs and symptoms of mitochondrial trifunctional protein deficiency may begin during infancy or later in life. Features that occur during infancy include feeding difficulties, lack of energy (lethargy), low blood sugar (hypoglycemia), weak muscle tone (hypotonia), and liver problems. Infants with this disorder are also at high risk for serious heart problems, breathing difficulties, coma, and sudden death. Signs and symptoms of mitochondrial trifunctional protein deficiency that may begin after infancy include hypotonia, muscle pain, a breakdown of muscle tissue, and a loss of sensation in the extremities (peripheral neuropathy). Some patients with MTP deficiency show a protracted progressive course associated with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy. These patients tend to survive into adolescence and adulthood.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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