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Abstract
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.
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Glutaric aciduria type 1 should be considered in the differential diagnosis of dystonic/dyskinetic cerebral palsy, macrocephaly, and non-accidental injury
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Siblings, older and younger, must be screened
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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