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Disease Information for Methylmalonic acidemia/ketotic glycine: Definition
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- 102 possible findings found
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- External Links Related to Methylmalonic acidemia/ketotic glycine
Methylmalonyl CoA Mutase deficiency and/or Defects in b12 synthesis; like proprionic acidemia disorder hyperammonemia
and metabolic acidosis in infancy; ketotic hyperglycinemia syndrome later; urine 3 ketovaleric acid during ketotic episodes; urine methylmalonic acid and 3 hydroxproprionic acid increased; with B12 defects adenosyl-B12 synthesis decreased and early neurologic features of B12 defect especioally of methyl-B12; more abnormalities with this subset include hypomethioninemia,and increased urine homocystine; [Current Pediatric DXRX 14th Hayes and Sondheimer]-----------------------------------------.
Acidemia, Methylmalonic;Methylmalonic Aciduria;The methylmalonic acidemias are organic acidemias caused by an enzymatic defect in the metabolism of four amino acids (methionine, threonine, isoleucine and valine); This results in an abnormally high level of acid in the blood (acidemia) and body tissues;In the acute form, drowsiness, coma, and seizures may occur; Mental retardation is a long-term consequence; The disorder may be caused by a deficiency of one or more of the enzymes methylmalonyl CoA mutase, methylmalonyl racemase, or adenosylcobalamin synthetic enzymes; Excretion of methylmalonate, a product of amino acid metabolism, in the urine is abnormally high and therefore is a marker of the disorder; All known organic acidemias are inherited as autosomal recessive traits---------------[NORD 2005]--------------