Biomaterial Database

Glutaric aciduria in progressive choreo-athetosis. 1978

N J Brandt, and S Brandt, and E Christensen, and N Gregersen, and K Rasmussen

The clinical symptoms in a 10-year-old girl with progressive dystonic cerebral palsy are described. The biochemical findings were dominated by large amounts of glutaric acid in the urine. The disorder is caused by impairment of the degradation of glutaryl-CoA. A survey is given of the clinical and biochemical symptoms, based on the five cases reported so far. It is concluded that patients with progressive dystonic palsy should be examined for disorders in the metabolism of organic acids.

UI	MeSH Term	Description	Entries
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
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
D002547	Cerebral Palsy	A heterogeneous group of nonprogressive motor disorders caused by chronic brain injuries that originate in the prenatal period, perinatal period, or first few years of life. The four major subtypes are spastic, athetoid, ataxic, and mixed cerebral palsy, with spastic forms being the most common. The motor disorder may range from difficulties with fine motor control to severe spasticity (see MUSCLE SPASTICITY) in all limbs. Spastic diplegia (Little disease) is the most common subtype, and is characterized by spasticity that is more prominent in the legs than in the arms. Pathologically, this condition may be associated with LEUKOMALACIA, PERIVENTRICULAR. (From Dev Med Child Neurol 1998 Aug;40(8):520-7)	Diplegic Infantile Cerebral Palsy,Little Disease,Monoplegic Cerebral Palsy,Quadriplegic Infantile Cerebral Palsy,Spastic Diplegia,CP (Cerebral Palsy),Cerebral Palsy, Athetoid,Cerebral Palsy, Atonic,Cerebral Palsy, Congenital,Cerebral Palsy, Diplegic, Infantile,Cerebral Palsy, Dyskinetic,Cerebral Palsy, Dystonic-Rigid,Cerebral Palsy, Hypotonic,Cerebral Palsy, Mixed,Cerebral Palsy, Monoplegic, Infantile,Cerebral Palsy, Quadriplegic, Infantile,Cerebral Palsy, Rolandic Type,Cerebral Palsy, Spastic,Congenital Cerebral Palsy,Diplegia, Spastic,Infantile Cerebral Palsy, Diplegic,Infantile Cerebral Palsy, Monoplegic,Infantile Cerebral Palsy, Quadriplegic,Little's Disease,Monoplegic Infantile Cerebral Palsy,Rolandic Type Cerebral Palsy,Athetoid Cerebral Palsy,Atonic Cerebral Palsy,Cerebral Palsies, Athetoid,Cerebral Palsies, Dyskinetic,Cerebral Palsies, Dystonic-Rigid,Cerebral Palsies, Monoplegic,Cerebral Palsy, Dystonic Rigid,Cerebral Palsy, Monoplegic,Diplegias, Spastic,Dyskinetic Cerebral Palsy,Dystonic-Rigid Cerebral Palsies,Dystonic-Rigid Cerebral Palsy,Hypotonic Cerebral Palsies,Hypotonic Cerebral Palsy,Mixed Cerebral Palsies,Mixed Cerebral Palsy,Monoplegic Cerebral Palsies,Spastic Cerebral Palsies,Spastic Cerebral Palsy,Spastic Diplegias
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D003065	Coenzyme A		CoA,CoASH
D005260	Female		Females
D005977	Glutarates	Derivatives of glutaric acid (the structural formula (COO-)2C3H6), including its salts and esters.	Glutarate
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000214	Acyl Coenzyme A	S-Acyl coenzyme A. Fatty acid coenzyme A derivatives that are involved in the biosynthesis and oxidation of fatty acids as well as in ceramide formation.	Acyl CoA,Fatty Acyl CoA,Long-Chain Acyl CoA,Acyl CoA, Fatty,Acyl CoA, Long-Chain,CoA, Acyl,CoA, Fatty Acyl,CoA, Long-Chain Acyl,Coenzyme A, Acyl,Long Chain Acyl CoA
D000592	Amino Acid Metabolism, Inborn Errors	Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.	Amino Acidopathies, Congenital,Amino Acid Metabolism Disorders, Inborn,Amino Acid Metabolism, Inborn Error,Amino Acid Metabolism, Inherited Disorders,Amino Acidopathies, Inborn,Congenital Amino Acidopathies,Inborn Errors, Amino Acid Metabolism,Inherited Errors of Amino Acid Metabolism,Amino Acidopathy, Congenital,Amino Acidopathy, Inborn,Congenital Amino Acidopathy,Inborn Amino Acidopathies,Inborn Amino Acidopathy