Intraretinal hemorrhages and chronic subdural effusions: Glutaric Aciduria Type 1 Can Be Mistaken for Shaken Baby Syndrome

Retina

Volumn 23, Issue 5, 2003, Pages 724-726

  Gago, Luis C ^b   Wegner, Rebecca K ^b   Capone Jr , Antonio ^a   Williams, George A ^b  

^a Medical Office Building   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

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

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHRONIC DISEASE; COMPUTER ASSISTED TOMOGRAPHY; DEVELOPMENTAL DISORDER; DIET RESTRICTION; DIET SUPPLEMENTATION; ENZYME DEFICIENCY; GLUTARIC ACIDURIA; HUMAN; INFANT; MACROCEPHALY; MALE; MITOCHONDRION; RETINA HEMORRHAGE; SUBDURAL EFFUSION; URINALYSIS;

AMINO ACID METABOLISM, INBORN ERRORS; DIAGNOSIS, DIFFERENTIAL; GLUTARATES; GLUTARYL-COA DEHYDROGENASE; HEMATOMA, SUBDURAL, CHRONIC; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; RETINAL HEMORRHAGE; SHAKEN BABY SYNDROME; TOMOGRAPHY, X-RAY COMPUTED;

EID: 0142244607     PISSN: 0275004X     EISSN: None     Source Type: Journal    
DOI: 10.1097/00006982-200310000-00027     Document Type: Article

References (5)

1. Kafil-Hussain NA, Monavari A, Bowell R, et al. Ocular findings in glutaric aciduria type 1. J Pediatr Ophthalmol Strab 2000;37:289-293.
2. Hoffmann GF, Athanassopouls S, Burlina AB, et al. Clinical course, early diagnosis, treatment and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics 1996;27:115-123.
3. Hartley LM, Khwaja OS, Verity CM. Glutaric aciduria type 1 and nonaccidental head injury. Pediatrics 2001;107(1):174-175.
4. Morton DH, et al. 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 (1): 89-95.
5. Piatt JH, Frim D. Glutaric aciduria type and nonaccidental head injury [letter]. Pediatrics 2002;109(3):554.