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Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades

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Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades

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Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades

the doctor in a dressing gown with a stethoscope sits at a table and works in a laptop. Medecine, diagnostics and modern technologies

This publication investigates Glutaric acidemia type 1 (GA1), a disorder of cerebral organic acid metabolism caused by mutations in the GCDH gene.

The study analyzes treatment outcomes in three cohorts of patients. Cohort I, with newborn screening and treatment using a lysine-free, arginine-enriched metabolic formula, showed a significantly lower incidence of striatal degeneration (7%) compared to Cohort II (47%) and Cohort III (90%).

Early and standardized treatment with the metabolic formula in Cohort I effectively prevented most striatal injuries and supported normal growth and development. Further research is needed to determine the need for ongoing dietary interventions and IV therapies beyond early childhood.

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Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades

Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades

Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades

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