Biomaterial Database

N-Acetylglutamate synthetase deficiency responding to carbamylglutamate. 1997

J Hinnie, and J P Colombo, and B Wermuth, and F J Dryburgh

Department of Clinical Biochemistry, Glasgow Royal Infirmary, UK.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008297	Male		Males
D010264	Paraplegia	Severe or complete loss of motor function in the lower extremities and lower portions of the trunk. This condition is most often associated with SPINAL CORD DISEASES, although BRAIN DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; and MUSCULAR DISEASES may also cause bilateral leg weakness.	Paralysis, Lower Extremities,Paraplegia, Spastic,Spastic Paraplegia,Paralysis, Legs,Paralysis, Lower Limbs,Paraplegia, Ataxic,Paraplegia, Cerebral,Paraplegia, Flaccid,Paraplegia, Spinal,Ataxic Paraplegia,Ataxic Paraplegias,Cerebral Paraplegia,Cerebral Paraplegias,Flaccid Paraplegia,Flaccid Paraplegias,Paraplegias,Paraplegias, Ataxic,Paraplegias, Cerebral,Paraplegias, Flaccid,Paraplegias, Spastic,Paraplegias, Spinal,Spastic Paraplegias,Spinal Paraplegia,Spinal Paraplegias
D001927	Brain Diseases	Pathologic conditions affecting the BRAIN, which is composed of the intracranial components of the CENTRAL NERVOUS SYSTEM. This includes (but is not limited to) the CEREBRAL CORTEX; intracranial white matter; BASAL GANGLIA; THALAMUS; HYPOTHALAMUS; BRAIN STEM; and CEREBELLUM.	Intracranial Central Nervous System Disorders,Brain Disorders,CNS Disorders, Intracranial,Central Nervous System Disorders, Intracranial,Central Nervous System Intracranial Disorders,Encephalon Diseases,Encephalopathy,Intracranial CNS Disorders,Brain Disease,Brain Disorder,CNS Disorder, Intracranial,Encephalon Disease,Encephalopathies,Intracranial CNS Disorder
D003241	Consanguinity	The magnitude of INBREEDING in humans.	Inbreeding, Human,Consanguineous Marriage,Consanguinous Mating,Consanguineous Marriages,Consanguinities,Consanguinous Matings,Human Inbreeding,Human Inbreedings,Inbreedings, Human,Marriage, Consanguineous,Marriages, Consanguineous,Mating, Consanguinous,Matings, Consanguinous
D005334	Fever	An abnormal elevation of body temperature, usually as a result of a pathologic process.	Pyrexia,Fevers,Pyrexias
D005971	Glutamates	Derivatives of GLUTAMIC ACID. Included under this heading are a broad variety of acid forms, salts, esters, and amides that contain the 2-aminopentanedioic acid structure.	Glutamic Acid Derivatives,Glutamic Acids,Glutaminic Acids
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000123	Acetyltransferases	Enzymes catalyzing the transfer of an acetyl group, usually from acetyl coenzyme A, to another compound. EC 2.3.1.	Acetyltransferase
D000641	Ammonia	A colorless alkaline gas. It is formed in the body during decomposition of organic materials during a large number of metabolically important reactions. Note that the aqueous form of ammonia is referred to as AMMONIUM HYDROXIDE.