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Congenital lactic acidosis : ウィキペディア英語版 | Congenital lactic acidosis Congenital lactic acidosis (CLA) is a rare disease caused by mutations in mitochondrial DNA (mtDNA) that affect the ability of cells to use energy and cause too much lactic acid to build up in the body, a condition called lactic acidosis. == Signs and symptoms == Severe cases of CLA manifest in the neonatal period; milder cases caused by mtDNA mutations may not manifest until as late as early adulthood. Symptoms may be constant or brought on by an event causing stress, such as an asthma attack, seizure, or infection. Symptoms in the neonatal period include hypotonia, lethargy, vomiting, and tachypnea. As the disease progresses, it causes developmental delay, cognitive disabilities, abnormal development of the face and head, and organ failure.
抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)』 ■ウィキペディアで「Congenital lactic acidosis」の詳細全文を読む
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