Glutaric Aciduria Type 1: Unusual Biochemical Presentation

Citation:

Campistol J, Ribes A, Alvarez L, Christensen E, Millington DS: Glutaric aciduria type 1: unusual biochemical presentation. Journal of Pediatrics 121(1):83-86, July 1992.

Abstract

Notes:

• The patient in this series had normal urine concentrations. Testing of cerebrospinal fluid enabled the diagnosis.
• "This case emphasizes the difficulties in diagnosing this disease by conventional methods, and the need to assess glutaric-coenzyme A dehydrogenase activity in leukocytes or fibroblasts to establish the diagnosis." (p. 83)
• Symptoms in this child:
  • diarrhea
  • hypotonia
  • prostration
  • right-sided clonic seizures
  • Tonic deviation of gaze to the right
  • irritable
  • poor eye contact
  • progressive dystonic tetraparesis
  • unusually sleepy
  • dystonic posturing
• Because the organic analysis in the urine was normal, the doctors did not initially suspect GA1.

Return to Shaken Baby Syndrome Medical Articles
Source: www.SusanCAnthony.com