Neurophysiologic features in glutaric aciduria type I

Turkish Journal of Pediatrics

Volumn 47, Issue 2, 2005, Pages 153-158

  Yalnizoǧlu, Dilek ^a   Sari, Neriman ^a   Turanli, Güzide ^a   Coşkun, Turgay ^a   Topçu, Meral ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

Author keywords

Brain stem auditory evoked response; Electroencephalogram; Glutaric aciduria type I; Metabolic disorders; Neurophysiology; Organic acidemias; Visual evoked potential

Indexed keywords

BACLOFEN; BENZODIAZEPINE DERIVATIVE; CLONAZEPAM; GLUTARIC ACID;

ACIDEMIA; ACIDURIA; AGE DISTRIBUTION; AMPLITUDE MODULATION; ARTICLE; AUTISM; BETA RHYTHM; BRAIN DYSFUNCTION; CLINICAL ARTICLE; CLINICAL FEATURE; DELTA RHYTHM; DEVELOPMENTAL DISORDER; DRUG RESPONSE; DYSTONIA; ELECTROENCEPHALOGRAPHY; EVOKED BRAIN STEM AUDITORY RESPONSE; EVOKED VISUAL RESPONSE; FEMALE; GLUTARIC ACIDURIA TYPE I; HUMAN; INBORN ERROR OF METABOLISM; INFANT; INTELLECTUAL IMPAIRMENT; LANGUAGE ABILITY; MACROCEPHALY; MALE; MENTAL DEFICIENCY; MOTOR RETARDATION; MUSCLE HYPOTONIA; NEUROIMAGING; NEUROLOGIC DISEASE; NEUROLOGIC EXAMINATION; NONVERBAL COMMUNICATION; OCCIPITAL LOBE; ONSET AGE; PRESCHOOL CHILD; SOCIAL ADAPTATION; SPASTICITY; STEREOTYPY; TREATMENT PLANNING;

AMINO ACID METABOLISM, INBORN ERRORS; CHILD, PRESCHOOL; ELECTROENCEPHALOGRAPHY; EVOKED POTENTIALS, VISUAL; FEMALE; GLUTARYL-COA DEHYDROGENASE; HUMANS; INFANT; MALE; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS;

EID: 20044372063     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (16)

1. Straus KA, Puffenberger EG, Robinson DL, Morton DH. Type I glutaric aciduria part 1: natural history of 77 patients. Am J Med Genet (Sem Med Genet) 2003a; 121C: 35-52.
2. Bjugstad KB, Goodman SI, Freed CR. Age at symptom onset predicts severity of motor impairment and clinical outcome of glutaric acidemia type 1. J Pediatr 2000; 137: 681-686.
3. Stigsby B, Yarworth SM, Rahbeeni Z, et al. Neurophysiological correlates of organic acidemias: a survey of 107 patients. Brain Dev 1994; 16 (suppl): 125-144.
4. Coşkun T, Topçu M, Üstün I, et al. Neurophysiological studies of patients with classical phenylketonuria. Evaluation of results of IQ scores, EEG and evoked potentials. Turk J Pediatr 1993; 35: 1-10.
5. 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.
6. Hoffman GF, Bohles HJ, Burlina A, et al. Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 1995; 18: 173-176.
7. Goodman SI, Biery BJ. Glutaric acidemia (type I). Ment Retard Dev Disabil Res Rev 1996; 2: 155-159.
8. Fujimoto S, Shibata H, Sugiyama N, Ohba S, Togari H, Wada Y. Unique electroencephalograhic change of acute encephalopathy in glutaric aciduria type I. Tohoku J Exp Med 2000; 191: 31-38.
9. Kyllerman M, Skjeldal OH, Lundberg M, et al. Dystonia and dyskinesia in glutaric aciduria type 1: clinical heterogeneity and therapeutic considerations. Mov Disord 1994; 9: 22-30.
10. Superti-Furga A, Hoffmann GF. Glutaric aciduria type I (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions. Eur J Pediatr 1997; 156: 821-828.
11. Gotman J, Gloor P, Quesney LF, Olivier A. Correlations between EEG changes induced by diazepam and the location of epileptic spikes ad seizures. Electroencephal Clin Neurophysiol 1982; 54: 614-621.
12. Terrence CF, Fromm GH, Roussan MS. Baclofen. Its effect on seizure frequency. Arch Neurol 1983; 40: 28-29.
13. Kofler M, Kronenberg MF, Rifici C, Saltuari L, Bauer G. Epileptic seizures associated with intrathecal baclofen application. Neurology 1994; 44: 25-27.
14. Gregersen N, Brandt NJ, Christensen E, Gron I, Rasmussen K, Brandt S. Glutaric aciduria: clinical and laboratory findings in two brothers. J Pediatr 1977; 90: 740-745.
15. Seccombe DW, James L, Booth F. L-Carnitine treatment in glutaric aciduria type I. Neurology 1986; 36: 264-267.
16. Amit R, Berginer J, Shapira Y. CT in glutaric aciduria. Neurology 1990; 40: 188-189.