Glutaric aciduria type 1 with normal evolution: Follow-up of one case until adult age;Aciduria glutárica tipo 1 con evolución normal: Seguimiento de un caso hasta la edad adulta

Neurologia

Volumn 20, Issue 4, 2005, Pages 189-193

  Pascual Castroviejo, Ignacio ^a,d   Pascual Pascual, S I ^a   Merinero, B ^b   Ugarte, M ^b   Garcia Segura J M ^c   Viano J ^c   Velazquez R ^a  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^b Centro De Diagnostico De Enfermedades Moleculares   (Spain)

^c Sanatorio Nuestra Senora del Rosario   (Spain)

^d NONE   (Spain)

Author keywords

Corpus callosum; Dyskinesia; Dystonia; Glutaric acid; Glutaric aciduria type 1; Magnetic resonance; Mental retardation

Indexed keywords

GLUTARIC ACID; GLUTARYL COENZYME A DEHYDROGENASE; LACTIC ACID;

ACIDURIA; ADULT; ARTICLE; BASAL GANGLION; BEHAVIOR; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; CONVULSION; CORPUS CALLOSUM; DISEASE COURSE; ELECTROENCEPHALOGRAPHY; ENZYME ACTIVITY; FEMALE; FIBROBLAST CULTURE; FOLLOW UP; GLUTARIC ACIDURIA TYPE 1; HUMAN; INTELLIGENCE QUOTIENT; MACROCEPHALY; NUCLEAR MAGNETIC RESONANCE IMAGING; PSYCHOMOTOR DEVELOPMENT; WHITE MATTER;

BASAL GANGLIA; BRAIN; BRAIN CHEMISTRY; BRAIN DISEASES, METABOLIC, INBORN; CARNITINE; CELLS, CULTURED; CHILD DEVELOPMENT; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 19; CORPUS CALLOSUM; FEMALE; FIBROBLASTS; FOLLOW-UP STUDIES; GLUTARATES; GLUTARYL-COA DEHYDROGENASE; HETEROZYGOTE; HUMANS; INTELLIGENCE; LACTIC ACID; MAGNETIC RESONANCE IMAGING; MUTATION, MISSENSE; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; RIBOFLAVIN; SEIZURES; SEQUENCE DELETION;

EID: 20444387578     PISSN: 02134853     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (22)

1. Goodman SI, Markey SP, Moe PG, Miles BS, Teng CC. Glutaric aciduria a «new» disorder of amino acid metabolism. Biochem Med 1975;12:12-21.
2. Greenberg CR, Duncan AMV, Gregory CA, Singal R, Goodman SI. Assignment of human glutaryl-CoA dehydrogenase gene (GCDH) to the short arm of chromosome 19 (19p13.2) by in situ hybridisation and somatic cell hybrid analysis. Genomics 1994;21: 289-90.
3. Hoffmann GF, Zschocke J. Glutaric aciduria type 1: from clinical, biochemical and molecular diversity to successful therapy. J Inher Metab Dis 1999;22:381-91.
4. Kyllerman M, Skjeldal ON, Lundberg M, Holme I, Jellum E, von Dobeln U, et al. Dystonia and dyskinesia in glutaric aciduria type 1: clinical heterogeneity and therapeutic considerations. Mov Disord 1994;9:22-30.
5. Hoffmann GF, Athanassopoulos S, Burlina AB, Duran M, de Klerk JBC, Lehner W, et al. Clinical course, early diagnosis, treatmen and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics 1996;27:115-23.
6. Bergman I, Finegold D, Gartner JC, Zitelli BJ, Claassen D, Scarano J, et al. Acute pround dystonia in infants with glutaric academia. Pediatrics 1989;83:228-34.
7. Superti-Furga A, Hoffmann GF, Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions. Report from an international meeting. Eur J Pediatr 1997;156:821-8.
8. Busquets C, Merinero B, Christensen E, Gelpi JL, Campistol J, Pineda M, et al. Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. Pediatr Res 2000;48:315-22.
9. Kyllerman M, Skjeldal O, Christensen E, Hagberg G, Holme E, Lönnquist T, et al. Long-term follow-up, neurological outcome and survival rate in 28 nordic patients with glutaric aciduria type 1. Eur J Paediatr Neurol 2004;8:21-9.
10. Morton DH, Bennett MJ, Seargeant LE, Nichter CA, Kelley IK. Glutaric aciduria type 1: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania. Am J Med Genet 1991;41:89-95.
11. Hauser SE, Boneh A. Severe clinical course with recurrent hyperpyrexia in a patient with glutaric aciduria type 1. Neuropediatrics 1999;30:51-2.
12. Christensen E, Ribes A, Busquets C, Pineda M, Duran M, Poll-The BT, et al. Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion. J Inher Metab Dis 1997;20:383-6.
13. Pineda M, Tibes A, Busquets C, Vilaseca MA, Aracil A, Christensen E. Glutaric aciduria type 1 with high residual glutaryl-CoA dehydrogenase activity. Dev Med Child Neurol 1998;40:840-2.
14. Bjugstad KB, Goodman SI, Freed CR. Age at symptom onset predicts severity of motor impairment and clinical outcome of glutaric aciduria type 1. J Pediatr 2000;137:681-6.
15. Al-Essa M, Bakheet S, Patay Z, Al-Watban J, Powe J, Joshi S, et al. Fluoro-2-deoxiglucose (18FDG) PET scan of the brain in glutaric aciduria type 1: clinical and MRI correlations. Brain Dev 1998;20:295-301.
16. Bodamer OA, Gruber S, Stockler-Ipsiroglu S. Nuclear magnetic resonance spectroscopy in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 2004;27:877-83.
17. Schwarz M, Christensen E, Superti-Furga A, Brandt NJ. The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type 1. Hum Genet 1998;102:452-8.
18. Merinero B, Pérez-Cerdá C, Font LM, García MJ, Aparicio M, Lorenzo G, et al. Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA-dehydrogenase deficiency. Neuropediatrics 1995;26:238-42.
19. Zafeiriou DI, Zschocke J, Augoustidou-Savvopoulou P, Mauromatis I, Sewell A, Kontopoulos E, et al. Atypical and variable clinical presentation of glutaric aciduria type I. Neuropediatrics 2000;31:303-6.
20. Bähr O, Mader I, Zschocke J, Dichgans J, Schulz JB. Adult onset glutaric aciduria type I presenting with a leukoencephalopathy. Neurology 2002;59:1802-4.
21. Neumaier-Probst E, Harting I, Seitz A, Ding C, Kolker S. Neuroradiological findings in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency). J Inherit Met Dis 2004;27:869-76.
22. Christensen E, Ribes A, Merinero B, Zschocke J. Correlation of genotype and phenotype in glutaryl-CoA dehydrogenese deficiency. J Inherit Metab Dis 2004;27:261-8.