Medical Definition of Hyperglycinaemia

1. 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. (05 Mar 2000)

Lexicographical Neighbors of Hyperglycinaemia

hypergic
hyperglandular
hyperglobulia
hyperglobulinaemia
hyperglobulinaemic purpura
hyperglobulinemic purpura
hyperglycaemia
hyperglycaemia
hyperglycaemic-glycogenolytic factor
hyperglycaemic hyperosmolar nonketotic coma
hyperglycemia
hyperglycemia
hyperglycemias
hyperglycemic
hyperglyceridemia
hyperglycinaemia (current term)
hyperglycinuria
hyperglycogenolysis
hyperglycorrhachia
hyperglycosaemia
hyperglycosuria
hyperglyoxylaemia
Hyperglyphe perciformis
hypergnosis
hypergol
hypergolic
hypergolically
hypergols
hypergonadism
hypergonadotrophic

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