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Literature DB >> 14579152

Glutaric aciduria type 1 and neonatal screening: time to proceed--with caution.

Abstract

The new technology of tandem mass spectrometry is having a significant impact on the diagnostics of inborn metabolic errors. One of the most important aspects of this new technology is the possibility of recognising a whole class of disorders within a single analytical step. Shall this powerful technology be applied to the screening of newborn babies? Careful evaluation of every single disorder that could potentially be identified is needed. In the following, I will present some considerations that concern glutaric aciduria type 1 (MIM 231670; glutaryl-CoA dehydrogenase deficiency).

Entities: Disease

Mesh：

Substances：

Year: 2003 PMID： 14579152 DOI： 10.1007/s00431-003-1344-2

Source DB: PubMed Journal: Eur J Pediatr ISSN： 0340-6199 Impact factor: 3.183

34 in total

1. Natural history of glutaric aciduria type 1.

Authors: J Collins; J V Leonard
Journal: Arch Dis Child Date: 2000-07 Impact factor: 3.791

2. Glutaric aciduria type 1: MR findings in two cases.

Authors: N R Altman; M J Rovira; M Bauer
Journal: AJNR Am J Neuroradiol Date: 1991 Sep-Oct Impact factor: 3.825

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

Authors: C R Greenberg; A N Prasad; L A Dilling; J R G Thompson; J C Haworth; B Martin; P Wood-Steiman; L E Seargeant; B Seifert; F A Booth; C Prasad
Journal: Mol Genet Metab Date: 2002-01 Impact factor: 4.797

4. Subdural hematoma and glutaric aciduria type 1.

Authors: P Drigo; A B Burlina; P A Battistella
Journal: Brain Dev Date: 1993 Nov-Dec Impact factor: 1.961

5. Chronic treatment with glutaric acid induces partial tolerance to excitotoxicity in neuronal cultures from chick embryo telencephalons.

Authors: Stefan Kölker; Jürgen G Okun; Barbara Ahlemeyer; Angela T S Wyse; Friederike Hörster; Moacir Wajner; Dirk Kohlmüller; Ertan Mayatepek; Josef Krieglstein; Georg F Hoffmann
Journal: J Neurosci Res Date: 2002-05-15 Impact factor: 4.164

6. Children with bilateral temporal arachnoid cysts may have glutaric aciduria type 1 (GAT1); operation without knowing that may be harmful.

Authors: V Lütcherath; P E Waaler; E Jellum; K Wester
Journal: Acta Neurochir (Wien) Date: 2000 Impact factor: 2.216

Review 7. A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolism.

Authors: M J Thomason; J Lord; M D Bain; R A Chalmers; P Littlejohns; G M Addison; A H Wilcox; C A Seymour
Journal: J Public Health Med Date: 1998-09

Glutaric aciduria type 1 and neonatal screening: time to proceed--with caution.

1. Natural history of glutaric aciduria type 1.

2. Glutaric aciduria type 1: MR findings in two cases.

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

4. Subdural hematoma and glutaric aciduria type 1.

5. Chronic treatment with glutaric acid induces partial tolerance to excitotoxicity in neuronal cultures from chick embryo telencephalons.

6. Children with bilateral temporal arachnoid cysts may have glutaric aciduria type 1 (GAT1); operation without knowing that may be harmful.

Review 7. A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolism.

8. Macrocephaly, dystonia, and bilateral temporal arachnoid cysts: glutaric aciduria type 1.

9. [Macrocephaly as the initial manifestation of glutaryl-CoA-dehydrogenase deficiency (glutaric aciduria type I)].

10. CT and MR of the brain in the diagnosis of organic acidemias. Experiences from 107 patients.

Review 1. Neonatal screening for glutaryl-CoA dehydrogenase deficiency.

2. Outcome of three cases of untreated maternal glutaric aciduria type I.