title: Ocular findings in glutaric aciduria type 1.
abstract: OBJECTIVE
  To determine the nature and course of ocular abnormalities in glutaric aciduria (acidemia) type 1 (GA1).
  
  
  METHODS
  Fifteen children with GA1 have been studied in the Republic of Ireland. A retrospective review of the records of the 6 children who died during their illness and prospective clinical examination of 9 survivors were performed.
  
  
  RESULTS
  Seven of the 15 children had abnormal eye findings. Ocular complications included intraretinal hemorrhages, cataract, gaze palsy, strabismus, ametropia, and pigmentary retinopathy.
  
  
  CONCLUSIONS
  Ocular involvement is common in glutaric aciduria. Complete ophthalmologic evaluation is recommended in all patients suspected to have this rare disease. Intraretinal hemorrhages due to GA1 could be misinterpreted as resulting from child abuse, and it is important to include this disorder with the differential diagnosis of child abuse.
authors.affiliation: Department of Pediatric Ophthalmology, The Children's Hospital, Dublin, Ireland.
authors.forename: N A
authors.initials: NA
authors.lastname: Kafil-Hussain
authors.forename: A
authors.initials: A
authors.lastname: Monavari
authors.forename: R
authors.initials: R
authors.lastname: Bowell
authors.forename: P
authors.initials: P
authors.lastname: Thornton
authors.forename: E
authors.initials: E
authors.lastname: Naughten
authors.forename: M
authors.initials: M
authors.lastname: O'Keefe
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis / Q000652:urine; D015415:Biomarkers; D002386:Cataract / Q000150:complications* / Q000175:diagnosis / Q000652:urine; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D005347:Fibroblasts / Q000201:enzymology / Q000473:pathology; D005977:Glutarates / Q000652:urine*; D050770:Glutaryl-CoA Dehydrogenase; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D015835:Ocular Motility Disorders / Q000150:complications* / Q000175:diagnosis / Q000652:urine; D010088:Oxidoreductases / Q000378:metabolism; D044925:Oxidoreductases Acting on CH-CH Group Donors; D011379:Prognosis; D011446:Prospective Studies; D012030:Refractive Errors / Q000150:complications* / Q000175:diagnosis / Q000652:urine; D012174:Retinitis Pigmentosa / Q000150:complications* / Q000175:diagnosis / Q000652:urine; D012189:Retrospective Studies; D012867:Skin / Q000201:enzymology / Q000473:pathology
chemical_list: D015415:Biomarkers; D005977:Glutarates; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase