Treatment of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria). Experience with diet, riboflavin, and GABA analogue.
The autosomal recessive inherited disorder glutaryl-CoA dehydrogenase deficiency (glutaric aciduria) runs a progressive course with severe choreoathetosis and dystonia, eventually leading to total helplessness and early death. Theree patients were observed during therapeutic trials with a protein-low diet, riboflavin and GABA analogue. Diet and riboflavin had a slight-to-moderate effect on the clinical symptoms; the excretion of glutaric acid and 2-amino-adipic acid decreased considerably during treatment. Regression of neurologic symptoms was observed during treatment with GABA analogue. It is concluded that the patients should be treated as early as possible with protein-low diet, riboflavin, and GABA analogue.
D015074:2-Aminoadipic Acid / Q000652:urine; D000592:Amino Acid Metabolism, Inborn Errors / Q000178:diet therapy / Q000188:drug therapy / Q000628:therapy*; D000613:Aminobutyrates / Q000627:therapeutic use*; D001418:Baclofen / Q000627:therapeutic use*; D002648:Child; D004035:Diet Therapy; D004044:Dietary Proteins / Q000627:therapeutic use; D005260:Female; D005977:Glutarates / Q000652:urine*; D006801:Humans; D008239:Lysine / Q000378:metabolism; D008297:Male; D010088:Oxidoreductases / Q000378:metabolism*; D012256:Riboflavin / Q000627:therapeutic use*; D014364:Tryptophan / Q000378:metabolism
D000613:Aminobutyrates; D004044:Dietary Proteins; D005977:Glutarates; D015074:2-Aminoadipic Acid; D014364:Tryptophan; D010088:Oxidoreductases; D001418:Baclofen; D008239:Lysine; D012256:Riboflavin