Biomaterial Database

[Prenatal diagnosis of enzymopathies of the urea cycle]. 1988

B Chadefaux, and D Rabier, and P Kamoun

Laboratoire de Biochimie Génétique, Hôpital Necker Enfants Malades, Paris.

Seven defects of the urea cycle enzymes were obtained in 48 hours at-risk pregnancies. A new method for measuring ornithine transcarbamylase and carbamylphosphate synthetase-I was used for prenatal diagnosis of the related enzymopathies in chorionic villi.

UI	MeSH Term	Description	Entries
D008025	Ligases	A class of enzymes that catalyze the formation of a bond between two substrate molecules, coupled with the hydrolysis of a pyrophosphate bond in ATP or a similar energy donor. (Dorland, 28th ed) EC 6.	Ligase,Synthetases,Synthetase
D008190	Lyases	A class of enzymes that catalyze the cleavage of C-C, C-O, and C-N, and other bonds by other means than by hydrolysis or oxidation. (Enzyme Nomenclature, 1992) EC 4.	Desmolase,Desmolases,Lyase
D011247	Pregnancy	The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.	Gestation,Pregnancies
D011296	Prenatal Diagnosis	Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.	Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
D002222	Carbamoyl-Phosphate Synthase (Ammonia)	An enzyme that catalyzes the formation of carbamoyl phosphate from ATP, carbon dioxide, and ammonia. This enzyme is specific for arginine biosynthesis or the urea cycle. Absence or lack of this enzyme may cause CARBAMOYL-PHOSPHATE SYNTHASE I DEFICIENCY DISEASE. EC 6.3.4.16.	Carbamoyl Phosphate Synthetase I,CP Synthase I,Carbamoyl-Phosphate Synthetase (Ammonia),Carbamoyl-Phosphate Synthetase I,Carbamoylphosphate Synthetase I,Carbamyl Phosphate Synthase (Ammonia),Carbamyl-Phosphate Synthase (Ammonia),Synthase I, CP,Synthetase I, Carbamoyl-Phosphate,Synthetase I, Carbamoylphosphate
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001124	Argininosuccinate Synthase	An enzyme of the urea cycle that catalyzes the formation of argininosuccinic acid from citrulline and aspartic acid in the presence of ATP. Absence or deficiency of this enzyme causes the metabolic disease CITRULLINEMIA in humans. EC 6.3.4.5.	Argininosuccinate Synthetase,Synthase, Argininosuccinate,Synthetase, Argininosuccinate
D014508	Urea	A compound formed in the liver from ammonia produced by the deamination of amino acids. It is the principal end product of protein catabolism and constitutes about one half of the total urinary solids.	Basodexan,Carbamide,Carmol
D056807	Argininosuccinic Aciduria	Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder.	Arginino Succinase Deficiency,ASA Deficiency,ASL Deficiency,Argininosuccinase Deficiency,Argininosuccinate Acidemia,Argininosuccinate Lyase Deficiency,Argininosuccinic Acid Lyase Deficiency,Argininosuccinic Acidemia,Argininosuccinicaciduria,Argininosuccinyl-Coa Lyase Deficiency,Arginosuccinase Deficiency,Asauria,Inborn Error of Urea Synthesis, Arginino Succinic Type,Urea Cycle Disorder, Arginino Succinase Type,ASA Deficiencies,ASL Deficiencies,Acidemia, Argininosuccinate,Acidemias, Argininosuccinate,Aciduria, Argininosuccinic,Acidurias, Argininosuccinic,Arginino Succinase Deficiencies,Argininosuccinate Acidemias,Argininosuccinate Lyase Deficiencies,Argininosuccinic Acidurias,Argininosuccinicacidurias,Deficiencies, ASA,Deficiencies, ASL,Deficiencies, Arginino Succinase,Deficiencies, Argininosuccinate Lyase,Deficiency, ASA,Deficiency, ASL,Deficiency, Arginino Succinase,Deficiency, Argininosuccinate Lyase