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Lactic acidosis refers to the process leading to the production of lactate by anaerobic metabolism. It increases hydrogen ion concentration tending to the state of acidemia or low pH. The result can be detected with high levels of lactate and low levels of bicarbonate. This is usually considered the result of illness but also results from ...
Congenital lactic acidosis. Other names. CLA. Mitochondrial DNA mutations cause this condition. Congenital lactic acidosis 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.
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. [1] The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products). In most of the disorders, problems arise due to accumulation of ...
Those with predominantly neurological symptoms fit within the category of Leigh Syndrome. [10] Broad clinical spectrum: From fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis. Most common cause of primary lactic acidosis in children. NLM ...
In cases of acute lactic acidosis, patients need emergency care to stabilize blood oxygen, and restore blood glucose. Proper identification of lactic acidosis in undiagnosed children presents a challenge, since the first symptoms are typically vomiting and dehydration, both of which mimic childhood infections like gastroenteritis or pneumonia ...
Lactic acid is chiral, consisting of two enantiomers. One is known as L -lactic acid, (S)-lactic acid, or (+)-lactic acid, and the other, its mirror image, is D -lactic acid, (R)-lactic acid, or (−)-lactic acid. A mixture of the two in equal amounts is called DL -lactic acid, or racemic lactic acid. Lactic acid is hygroscopic.
Leigh syndrome, French Canadian type. Leigh syndrome, French Canadian type, also known as congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, is a rare mitochondrial disorder which is characterized by regular metabolic acidosis, hypotonia, developmental delays and facial dysmorphy. [1][2] It's associated with mutations in a gene in ...
Pyruvate carboxylase deficiency type B has life-threatening signs and symptoms that become apparent shortly after birth. This form of the condition has been reported mostly in Europe, particularly France. Affected infants have severe lactic acidosis, a build-up of ammonia in the blood (hyperammonemia), and liver failure.