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Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management
  1. A A Monavari,
  2. E R Naughten
  1. National Centre for Inherited Metabolic Disorders, The Children's Hospital, Temple Street, Dublin 1, Ireland
  1. Dr Naughten


AIMS To study retrospectively the effects of treatment and the clinical outcome in 12 patients with glutaric aciduria type 1; and to compare the outcome in 6 patients diagnosed as a result of family screening with 6 patients who were diagnosed late after symptomatic presentation.

SETTING The National Centre for Inherited Metabolic Disorders, The Children's Hospital, Dublin, Ireland.

RESULT Four of the 6 children detected on screening are developmentally normal, 1 died, and the remaining 1 has mild mental handicap. All 6 of the late diagnosed symptomatic group suffered dyskinetic cerebral palsy and 5 have died.

CONCLUSION Experience of 50 patient treatment years has shown that early intensive management can alter the natural history of this rare disorder.

  • Glutaric aciduria type 1 should be considered in the differential diagnosis of dystonic/dyskinetic cerebral palsy, macrocephaly, and non-accidental injury

  • Siblings, older and younger, must be screened

  • In presymptomatic patients, supplementation with lcarnitine and intensive dietary treatment with aggressive emergency management results in a favourable outcome

  • glutaric aciduria
  • dyskinetic cerebral palsy
  • dietary management

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