Hemidystonia Improved by Baclofen and PET Scan Findings in a Patient With Glutaric Aciduria Type I

Goodman SI , Markey SP , Moe PG , et al: Glutaric aciduria: A "new" disorder of amino acid metabolism . Biochem Med 1975; 12:12-21.

Goodman SI , Frerman FE : Organic acidemias due to defects in lysine oxidation: 2-Ketoacidic acidemia and glutaric acidemia, in Scriver CR , Beaudet AL , Sly WS , Valle O (eds): The Metabolic Basis of Inherited Disease, 6th ed. New York, McGraw-Hill, 1989, pp 845-853.

Amir N. , El-Pely O. , Shaler RS , Christensen E. : Glutaric aciduria type I: Clinical heterogeneity and neuroradiologic features . Neurology 1987;37:1654-1657.

Goodman SI , Kohlhoff JG : Glutaric aciduria: Inherited deficiency of glutaryl CoA dehydrogenase activity . Biochem Med 1975; 13:138-140.

Chugani HT , Phelps ME , Mazziotta JC : Positron emission tomography study of human brain functional development . Ann Neurol 1987;22:487-497.

Goodman SI , Norenberg MD , Shikes RH , et al: Glutaric aciduria: Biochemical and morphologic considerations . J Pediatr 1977;90:746-750.

Leibel RL , Shih VE , Goodman SI , et al: Glutaric acidemia: A metabolic disorder causing progressive choreoathetosis. Neurology 1980;30:1163-1168.

Morton H. , Bennett M. , Nichter C. , Kelley RI : Glutaric aciduria type I of the Amish, abstract. Am J Hum Genet 1989;45(Suppl):49.

Haworth JC , Booth FA , Chudley AE , et al: Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds. J Pediatr 1991;118:52-58.

Brandt NJ , Gregersen N. , Christensen E. , et al: Treatment of glutaryl CoA dehydrogenase deficiency (glutaric aciduria): Experience with diet, riboflavin and GABA analogue. J Pediatr 1979; 94:669-673.

Seccoube DW , James L. , Booth F. : L-Carnitine treatment in glutaric aciduria type I. Neurology 1986 ;36:264-267.

Dunger DB , Snodgrass Gjai : Glutaric aciduria type I presenting with hypoglycemia. J Inherit Metab Dis 1984; 7:122-124.

Aicardi J. , Goutrieres F. , Sandabray JM , Ogier H. : CT scans of infants with glutaric aciduria. Dev Med Child Neurol 1985;27: 401-406.

Bergman I. , Finegold D. , Carlton J. , et al: Acute profound dystonia in infants with glutaric acidemia. Pediatrics 1989;83:228-234.

Picard L. , Clandon M. , Robard J. , et al: Cerebral computed tomography in premature infants with an attempt at staging developmental features. J Comput Assist Tomogr 1980;4:435-444.

Wilcken B. , Pitt J. , Heath D. , et al: L-2-Hydroxyglutaric aciduria: Three Australian cases. J Inherit Metab Dis 1993; 16:501-504.

Alexander GE , Delong MR , Strick PL : Parallel organization of functionally segregated circuits linking basal ganglion and cortex. Annu Rev Neurosci 1986;9:357-381.