Clinically asymptomatic glutaric aciduria type I in a 4 5/12-year-old girl with bilateral temporal arachnoid cysts

Journal of Inherited Metabolic Disease

Volumn 20, Issue 6, 1997, Pages 840-841

  Renner, C ^a   Razeghi, S ^a   Uberall M A ^a   Hartmann, P ^a   Lehnert, W ^b  

^a UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE; GLUTARIC ACID; GLUTARYL COENZYME A DEHYDROGENASE; LYSINE; TRYPTOPHAN;

ACIDURIA; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN ARACHNOID CYST; CASE REPORT; DIET RESTRICTION; DISEASE COURSE; DYSTONIA; ENZYME DEFICIENCY; FEMALE; HUMAN; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; TEMPORAL LOBE;

EID: 0030856877     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005348624375     Document Type: Article

References (3)

1. Amir N, Elpeleg O, Shalev RS, Christensen E (1989) Glutaric aciduria type I: enzymatic and neuroradiologic investigations of two kindreds. J Pediatr 114: 983-989.
2. Kyllerman M, Skjeldal OH, Lundberg et al (1994) Dystonia and dyskinesia in glutaric-aciduria type I: clinical heterogeneity and therapeutic considerations. Mov Disord 9: 22-30.
3. Morton DH, Bennett MJ, Seargeant LE, Nichter CA, Kelley RI (1991) Glutaric-aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania. Am J Med Genet 41: 89-95.