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Though lactic acidosis can be a complication of other congenital diseases, when it occurs in isolation it is typically caused by a mutation in the pyruvate dehydrogenase complex genes. It has either an autosomal recessive or X-linked mode of inheritance.
Reaction catalyzed by lactate dehydrogenase. Lactate dehydrogenase catalyzes the interconversion of pyruvate and lactate with concomitant interconversion of NADH and NAD +.It converts pyruvate, the final product of glycolysis, to lactate when oxygen is absent or in short supply, and it performs the reverse reaction during the Cori cycle in the liver.
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 ...
People with HUS commonly exhibit the symptoms of thrombotic microangiopathy (TMA), which can include abdominal pain, [14] low platelet count, [15] elevated lactate dehydrogenase LDH, (an enzyme released from damaged cells, and which is therefore a marker of cellular damage) [16] decreased haptoglobin (indicative of the breakdown of red blood ...
Moreover, both of these common infections can precipitate more severe hypoglycemia in undiagnosed children, making diagnosis of the underlying cause difficult. As elevated lactate persists, uric acid, ketoacids, and free fatty acids further increase the anion gap. In adults and children, the high concentrations of lactate cause significant ...
Diagnosis is generally based on blood tests finding signs of red blood cell breakdown (lactate dehydrogenase greater than 600 U/L), an aspartate transaminase greater than 70 U/L, and platelets less than 100×10 9 /l. [2] If not all the criteria are present, the condition is incomplete. [2]
In children with Leigh-syndrome associated ventricular septal defects, caused by pyruvate dehydrogenase deficiency, high forehead and large ears are seen; facial abnormalities are not typical of Leigh syndrome. [7] However, respiratory failure is the most common cause of death in people with Leigh syndrome.
Lactic acidosis is a physiological condition characterized by accumulation of lactate (especially L-lactate), with formation of an excessively high proton concentration [H +] and correspondingly low pH in the tissues, a form of metabolic acidosis.