Glutaric aciduria type I with high residual glutaryl-CoA dehydrogenase activity

Developmental Medicine and Child Neurology

Volumn 40, Issue 12, 1998, Pages 840-842

  Pineda, M ^a,f   Ribes, A ^b   Busquets, C ^b   Vilaseca, M A ^c   Aracil, A ^d   Christensen, E ^e  

^a Unitat Integrada Hosp Clin Sant J

^b Inst de Bioquim Clínica

^c Hospital Sant Joan de Déu

^d HOSPITAL CLÍNIC   (Spain)

^e Hosp Universitari Sant Joan de Deu ^*  (Denmark)

^f HOSPITAL SANT JOAN DE DÉU   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTARIC ACID; GLUTARIC ACID DERIVATIVE; GLUTARYL COENZYME A DEHYDROGENASE;

ACIDURIA; ADOLESCENT; ARTICLE; BASAL GANGLION; CASE REPORT; ENZYME ACTIVITY; GENE MUTATION; HETEROZYGOTE; HUMAN; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL;

EID: 0031775371     PISSN: 00121622     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1469-8749.1998.tb12362.x     Document Type: Article

References (6)

1. Brismar J, Ozand PT. (1995) CT and MRI of the brain in glutaric acidemia type I. A review of 59 published cases and a report of 5 new patients. American Journal of Neuroradiology 16:675-83.
2. Cmpistol J, Ribes A, Alvarez L, Christensen E, Millington D. (1992) Glutaric Aciduria type I: unusual biochemical presentation. Journal of Paediatrics 121:83-6.
3. Christensen E, Ribes A. Busquets C, Pineda M, Duran M, Poll-The BT, Greeberg CR, Leffers H, Schwartz M. (1997) Compounds heterozygotes with R227P mutation on one allele in the glutarylCoA dehydrogenase gene is associated with no or very low glutarntc excretian. Journal of Inherited Metabolic Disease 20: 383-6.
4. Hatworth JC, Booth FA, Chudley AE, deGroot GW, Dilling LA, Goodman SY, Greeberg CR, Mallory CJ, McClarty BM, Seshia SS, Seargeant LE. (1991) Phenotypie variability in glutaric aciduria type I. Report of fourteen cases in five Canadian kindreds. Journal of Paediatrics 118: 52-8.
5. Hoffmann GF, Athanassopoulos S, Burlina AB, Duran M, de Klerk JBC, Lehnert W, Leonard JV, Monavari AA, Müller E, Muntau AC et al. (1996) Clinical course, early diagnosis, treatment, and prevention of disease in Glutaryl-CoA dehydrogenase deficiency. Neitropediatrics 27: 115-23.
6. Merinero B, Perez Cerda C, Font LM, Garcia MJ, Aparicio G, Lorenzo G, Martinez-Bermejo A, Pascual-Castroviejo I, Christensen E, Ugarte M. (1995) Variable clinical and biochemical presentation of seven Spanish cases with Glutaryl-CoA dehydrogenase deficiency. Nettropediatrics 26: 238-42.