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hyperglycinaemia (medicine) and Puri travel agency (tourism)


hyperglycinaemia (medicine)


hyperglycinaemia


Elevated plasma glycine concentration.

Ketotic hyperglycinaemia, an inherited metabolic defect which results from a deficiency of propionyl Coenzyme A carboxylase, the enzyme that converts propionate to methylmalonate; the enzyme requires biotin as a cofactor; clinically, affected infants have overwhelming illness, with lethargy, metabolic acidosis with ketosis, hypotonia; coma and seizures typically develop with early death; propionic acid is markedly elevated in plasma and urine; there is also hyperammonaemia, and elevated levels of Other metabolites as well, include glycine, hence the original name for the syndrome.

Synonym: methylmalonic acidemia, propionic acidemia.

Nonketotic hyperglycinaemia, an inborn error of glycine metabolism, resulting from a defect in the glycine cleavage enzyme system; characteristically overwhelming disease in the newborn period, with coma, seizures and death, or, less often, gradual onset with failure to thrive, focal seizures, and mental retardation; there is massive elevation of plasma glycine, with increased levels in cerebrospinal fluid and urine; plasma hyperosmolality, severe dehydration occur without ketoacidosis; autosomal recessive inheritance.


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