Outcome of the first 3-years of a DNA-based neonatal screening program for glutaric acidemia type 1 in Manitoba and northwestern Ontario, Canada

Molecular Genetics and Metabolism

Volumn 75, Issue 1, 2002, Pages 70-78

  Greenberg, C R ^a   Prasad, A N ^a   Dilling, L A ^a   Thompson, J R G ^b   Haworth, J C ^a   Martin, B ^c   Wood Steiman, P ^d,e   Seargeant, L E ^a   Seifert, B ^f   Booth, F A ^a   Prasad, C ^a  

^a Department of Pediatrics and Child Health ^*  (Canada)

^b CADHAM PROVINCIAL LABORATORY   (Canada)

^c UNIVERSITY OF MANITOBA   (Canada)

^d HEALTH CANADA   (Canada)

^e Island Lake Tribal Council   (Canada)

^f HEALTH SCIENCES CENTRE   (Canada)

Author keywords

Glutaric acidemia type 1; Glutaryl CoA dehydrogenase; Newborn screening

Indexed keywords

CARNITINE; GLUTARIC ACID; RIBOFLAVIN;

ACUTE DISEASE; ARTICLE; BRAIN DISEASE; CANADA; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; DNA DETERMINATION; DYSTONIA; FEMALE; GASTROTOMY; GLUTARIC ACIDEMIA TYPE 1; HIGH RISK POPULATION; HOSPITALIZATION; HUMAN; INBORN ERROR OF METABOLISM; MAJOR CLINICAL STUDY; MALE; NEWBORN; NEWBORN DEATH; NEWBORN SCREENING; OUTCOMES RESEARCH; PRIORITY JOURNAL; PROTEIN RESTRICTION; SEIZURE; TREATMENT OUTCOME;

EID: 18544381916     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2001.3270     Document Type: Article

References (31)

1. Glutaric aciduria; a "new" disorder of amino acid metabolism
2. Glutaric aciduria: Inherited deficiency of glutaryl-CoA dehydrogenase activity
3. L-Glutaric acidemia: Investigation of a patient and his family
4. Neurological manifestations of organic acid disorders
5. Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds
6. Dystonia and dyskinesia in glutaric aciduria type I: Clinical heterogeneity and therapeutic considerations
7. A G-to-T transversion at the 15 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type I
8. Assignment of human glutaryl-CoA dehydrogenase gene (GCDH) to the short arm of chromosome 19 (19p 13.2) by in situ hybridization and somatic cell hybrid analysis
9. Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type 1): Review and report of thirty novel mutations
10. Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management
11. Vigabatrin in the treatment of glutaric aciduria type I
12. Treatment of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria). Experience with diet, riboflavin, and GABA analogue
13. Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency
14. Glutaric aciduria type I: From clinical, biochemical and molecular diversity to successful therapy
15. Diagnosis and management of glutaric aciduria type I
16. Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene
17. Utility of PCR for DNA analysis from dried blood spots on filter paper blotters
18. Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentography
19. Contribution of reactive oxygen species to 3-hydroxyglutarate neurotoxicity in primary neuronal cultures from chick embryo telencephalons
20. Outcome of the the first two years of screening for Glutaric aciduria type 1 in the Oji-Cree
21. Aboriginal health
22. Inhibition of brain glutamate decarboxylase by glutarate, glutaconate, and beta-hydroxyglutarate: Explanation of the symptoms in glutaric aciduria?
23. Glutaric acidemia: A metabolic disorder causing progressive choreoathetosis
24. Maturation-dependent neurotoxicity of 3-hydroxyglutaric and glutaric acids in vitro: A new pathophysiologic approach to glutaryl-CoA dehydrogenase deficiency
25. Potentiation of 3-hydroxyglutarate neurotoxicity following induction of astrocytic iNOS in neonatal rat hippocampal cultures
26. Inhibition of synaptosomal [3H]glutamate uptake and [3H]glutamate binding to plasma membranes from brain of young rats by glutaric acid in vitro
27. Pharmacological evidence for GABAergic and glutamatergic involvement in the convulsant and behavioral effects of glutaric acid
28. An overview of the preclinical aspects of topiramate: Pharmacology, pharmacokinetics, and mechanism of action
29. Topiramate blocks perinatal hypoxia induced seizures in rat pups
30. Usefulness of postischemic thrombolysis with or without neuroprotection in a focal embolic model of cerebral ischemia
31. Neuroprotection by delayed administration of topiramate in a rat model of middle cerebral artery embolization