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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| http://dx.doi.org/10.1136/adc.82.1.67 | DOI Listing |
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