Glutaric aciduria type I: Outcome in the Republic of Ireland

Journal of Inherited Metabolic Disease

Volumn 27, Issue 6, 2004, Pages 917-920

  Naughten, E R ^a   Mayne, P D ^a   Monavari, A A ^a   Goodman, S I ^b   Sulaiman, G ^c   Croke, D T ^c  

^a CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^b Children's Hospital Colorado   (United States)

^c ROYAL COLLEGE OF SURGEONS IN IRELAND   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE; GLUTARIC ACID; GLUTARYL COENZYME A DEHYDROGENASE; MINERAL; VITAMIN;

ACIDURIA; ADOLESCENT; ADULT; ARTICLE; CEREBRAL PALSY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CORPUS STRIATUM; DEGENERATIVE DISEASE; DIET THERAPY; DYSTONIA; ENZYME DEFICIENCY; FEMALE; GLUTARIC ACIDURIA TYPE 1; HIGH RISK PATIENT; HUMAN; INFANT; IRELAND; MALE; MORTALITY; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; OUTCOMES RESEARCH; SCREENING TEST; SPASTICITY; SPEECH DISORDER;

ADOLESCENT; ADULT; AMINO ACID METABOLISM, INBORN ERRORS; BRAIN DISEASES; CHILD; CHILD, PRESCHOOL; FEMALE; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; GLUTARATES; GLUTARYL-COA DEHYDROGENASE; HUMANS; INFANT; IRELAND; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NEOSTRIATUM; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; TREATMENT OUTCOME;

EID: 7244247142     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000045777.82784.74     Document Type: Article

References (7)

1. Christensen E (1983) Improved assay of glutaryl-CoA dehydrogenase in cultured cells and liver: Application to glutaric aciduria type I. Clin Chim Acta 129: 91-97.
2. Goodman SI, Markey SP, Moe PG, Miles BS, Teng CC (1975) Glutaric Daciduria: A "new" disorder of amino acid metabolism. Biochem Med 12: 12-21.
3. Greenberg CR, Prasad AN, Dilling LA, et al (2002) Outcome of the first 3-years of a DNA based neonatal screening program for glutaric academia type I in Manitoba and northwestern Ontario, Canada. Mol Genet Metab 75: 70-78.
4. Monavari AA, Naughten ER (2000) Prevention of cerebal palsy in glutaric aciduria type I by dietary management. Arch Dis Child 82: 67-70.
5. Strauss KA, Pufferberger EG, Robinson DL, Morton DH (2003) Type I glutaric aciduria, part 1: Natural history of 77 patients. Am J Med Genet 121C: 38-52.
6. Treacy EP, Lee-Chong A, Roche G, Lynch B, Ryan S, Goodman S (2003) Profound neurological presentation resulting from homozygosity for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype. J Inherit Metab Dis 26: 72-74.
7. Twomey EL, Naughten ER, Donoghue VB, Ryan S (2003) Neuroimaging findings in glutaric aciduria type 1. Pediatr Radiol 33: 823-830.