Riboflavin-Responsive Glutaryl CoA Dehydrogenase Deficiency

The document from 2006 reports on a study involving three patients with glutaryl CoA dehydrogenase (GCDH) deficiency, a metabolic disorder. The study found that riboflavin treatment, combined with a low lysine diet, significantly reduced urinary glutaric acid levels in one patient (Patient 1), who had 20% residual GCDH enzyme activity due to specific mutations (S139L and P248L). This patient remained clinically well over 3.5 years and was attending university at 21 years of age. Another patient (Patient 2) showed moderate improvement with riboflavin and dietary changes, while the third patient (Patient 3) did not respond to riboflavin but benefited from a low lysine and low tryptophan diet. The study suggests that riboflavin supplementation can be beneficial, particularly when combined with dietary modifications, and that early intervention with L-carnitine, riboflavin, and a low lysine diet is crucial for preventing neurological damage in patients with certain GCDH gene mutations.