Medical dictionary. 2011.
hyperglycinemia — Elevated plasma glycine concentration. ketotic h. an inherited metabolic defect which results from a deficiency of propionyl Coenzyme A carboxylase, the enzyme … Medical dictionary
Glycine encephalopathy — (Non ketotic Hyperglycinemia) Classification and external resources Glycine OMIM 605899 … Wikipedia
Список наследственных заболеваний — Список генетических заболеваний Основные статьи: наследственные заболевания, Наследственные болезни обмена веществ, Ферментопатия. В большинстве случаев приведен также код, указывающий на тип мутации и связанные с ней хромосомы. См. также система … Википедия
metabolic disease — ▪ pathology Introduction any of the diseases or disorders that disrupt normal metabolism, the process of converting food to energy on a cellular (cell) level. Thousands of enzymes participating in numerous interdependent metabolic pathways… … Universalium
β-hydroxypropionic aciduria — Elevated levels of β hydroxypropionic acid in the urine; seen in defects in methylmalonic acid and propionate metabolism, as well as in ketotic hyperglycinemia syndrome … Medical dictionary
methylmalonic acidemia — SYN: ketotic hyperglycinemia … Medical dictionary
propionic acid — Methylacetic acid; ethylformic acid; found in sweat; elevated in cases of ketotic hyperglycinemia and in cases of biotin deficiency. SYN: propanoic acid. * * * pro·pi·on·ic acid .prō pē .än ik n a liquid sharp odored fatty acid C3H6O2 found in… … Medical dictionary
propionic acidemia — SYN: ketotic hyperglycinemia … Medical dictionary
NKH — abbr. Non Ketotic Hyperglycinemia … Dictionary of abbreviations
