Congenital Lactic Acidosis
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Congenital Lactic Acidosis is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Lactate is a chemical compound normally produced by all cells and plays important roles in several chemical processes in the body. Lactic acidosis occurs when lactate and other molecules, called protons, accumulate in bodily tissues and fluids faster than the body can remove them. Consequently, tissues and fluids may become acidic and impair the normal functioning of cells. Lactic acidosis can have many different causes and is often present in severely ill patients hospitalized in intensive care units.
Congenital lactic acidosis is a rare form of lactic acidosis. The word "congenital" means that the underlying condition that increases risk of developing lactic acidosis is present at birth. In most cases, the cause of congenital lactic acidosis is due to a defect in an enzyme responsible for helping the body convert carbohydrates and fats into energy. Most of these enzymes are located in specialized structures within the cell called mitochondria. Therefore, most causes of congenital lactic acidosis are due to genetic mitochondrial enzyme deficiencies. These are either inherited from one or both parents or arise spontaneously in the developing embryo.
Lactic Acidosis Support Trust
1A Whitley Close
Cheshire, CW10 0NQ
National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda, MD 20824
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