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Glutaric aciduria type 1
Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder
Pronunciation
/gluˈtærɪk ˌæsəˈdʊriə taɪp 1/
Categories
autosomal recessive disease
disease
neurometabolic disease
organic acidemia
rare disease