Glutaric aciduria type I: An organic acidemia without acidosis with severe movement disorders;Aciduria glutárica tipo I: Una acidemia orgánica sin acidosis y con graves trastornos del movimiento

Neurologia

Volumn 16, Issue 8, 2001, Pages 337-341

  Prats Vinas J M ^a  

^a HOSPITAL DE CRUCES   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ACIDEMIA; ACIDURIA; AMINO ACID METABOLISM; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL FEATURE; DISEASE CLASSIFICATION; DISEASE SEVERITY; EDITORIAL; EXON; GENE MUTATION; GENETIC POLYMORPHISM; GLUTARIC ACIDURIA TYPE 1; HUMAN; INBORN ERROR OF METABOLISM; INTRON; MOTOR DYSFUNCTION;

ADULT; AMINO ACID METABOLISM, INBORN ERRORS; BRAIN DISEASES, METABOLIC; CARNITINE; CHILD, PRESCHOOL; GLUTARATES; GLUTARYL-COA DEHYDROGENASE; HUMANS; INFANT; LYSINE; MOVEMENT DISORDERS; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PHENOTYPE; TRYPTOPHAN;

EID: 0035169420     PISSN: 02134853     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Editorial

References (20)

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2. Glutaric aciduria: A "new" disorder of amino acid metabolism
3. Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): Advances and unanswered questions. Report from an international meeting
4. Glutaric aciduria type I: A common cause of episodic encephalopthy and spastic paralysis in the Amish of Lancaster country, Pennsylvania
5. Glutaric aciduria type I and related cerebral organic acid disorders
6. Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli
7. The human glutaryl-CoA dehydrogenase gene: Report of intronic sequence and of 13 novel mutations causing glutaric aciduria type I
8. Feasibility of molecular prenatal diagnosis of glutaric aciduria type I in chorionic villi
9. Novel mutations of the glutaryl CoA dehydrogenase gene in two Japanese patients with glutaric aciduria type I
10. Glutaryl CoA dehyrogenase deficiency in Spain: Evidence of two groups of patients, genetically and biochemically distinct
11. Aciduria Glutárica tipo I
12. Clinical course, early diagnosis, treatment and prevention of disease in Glutaril CoA dehyidrogenase deficiency
13. Age at symptom onset predicts severity of motor impairment and clinical outcome of glutaric academia type 1
14. Aciduria glutárica tipo 1: Diagnóstico en el adulto y variabilidad fenotípica
15. Glutaric aciduria type I: Unusual biochemical presentation
16. Glutaric aciduria type I with high residual glutaryl CoA dehydrogenase activity
17. A fibroblast glutaril CoA dehydrogenase assay using detritiation of 3H.labeled glutaryl CoA: Application in the genotyping of the glutaril CoA dehidrogenase locus
18. First trimester prenatal exclusion of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)
19. Diagnosis and management of glutaric aciduria type I