Biomaterial Database

[Hyperammonemia in childhood. II. Enzymopathies not related to the urea cycle]. 1988

E Kopieczna-Grzebieniak, and M Toborek, and D Jakubowska, and R Tarnawski

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007535	Isomerases	A class of enzymes that catalyze geometric or structural changes within a molecule to form a single product. The reactions do not involve a net change in the concentrations of compounds other than the substrate and the product.(from Dorland, 28th ed) EC 5.	Isomerase
D007652	Oxo-Acid-Lyases	Enzymes that catalyze the cleavage of a carbon-carbon bond of a 3-hydroxy acid. (Dorland, 28th ed) EC 4.1.3.	Ketoacid-Lyases,Ketoacid Lyases,Oxo Acid Lyases
D008661	Metabolism, Inborn Errors	Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.	Inborn Errors of Metabolism,Metabolism Errors, Inborn,Error, Inborn Metabolism,Errors Metabolism, Inborn,Errors Metabolisms, Inborn,Errors, Inborn Metabolism,Inborn Errors Metabolism,Inborn Errors Metabolisms,Inborn Metabolism Error,Inborn Metabolism Errors,Metabolism Error, Inborn,Metabolism Inborn Error,Metabolism Inborn Errors,Metabolisms, Inborn Errors
D008765	Methylmalonyl-CoA Mutase	An enzyme that catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA by transfer of the carbonyl group. It requires a cobamide coenzyme. A block in this enzymatic conversion leads to the metabolic disease, methylmalonic aciduria. EC 5.4.99.2.	Methylmalonyl-CoA Isomerase,Isomerase, Methylmalonyl-CoA,Methylmalonyl CoA Isomerase,Methylmalonyl CoA Mutase,Mutase, Methylmalonyl-CoA
D009100	Multiple Carboxylase Deficiency	A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY.	Carboxylase Deficiency, Multiple,Combined Carboxylase Deficiency,Carboxylase Deficiency, Combined,Deficiency, Combined Carboxylase,Deficiency, Multiple Carboxylase,Carboxylase Deficiencies, Combined,Carboxylase Deficiencies, Multiple,Combined Carboxylase Deficiencies,Deficiencies, Combined Carboxylase,Deficiencies, Multiple Carboxylase,Multiple Carboxylase Deficiencies
D010088	Oxidoreductases	The class of all enzymes catalyzing oxidoreduction reactions. The substrate that is oxidized is regarded as a hydrogen donor. The systematic name is based on donor:acceptor oxidoreductase. The recommended name will be dehydrogenase, wherever this is possible; as an alternative, reductase can be used. Oxidase is only used in cases where O2 is the acceptor. (Enzyme Nomenclature, 1992, p9)	Dehydrogenases,Oxidases,Oxidoreductase,Reductases,Dehydrogenase,Oxidase,Reductase
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children