" /> 3-Methylglutaconic Aciduria Type 1 - CISMeF





Preferred Label : 3-Methylglutaconic Aciduria Type 1;

NCIt definition : 3-methylglutaconic aciduria inherited in an autosomal recessive pattern and caused by mutations in the AUH gene. Signs and symptoms include psychomotor developmental abnormalities, speech delay, weakness and spasm of the extremities, dystonia, and metabolic acidosis.;

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31/07/2025


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