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FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome

It is not a medical device, is not FDA-approved, and does not diagnose, treat, cure, or prevent disease.

In newborn screenings where biochemical markers are indicative of vitamin B 12 deficiency, the diagnosis of inborn errors of vitamin B 12 metabolism is performed via functional studies on cultured fibroblasts isolated from skin biopsies (Watkins and Rosenblatt, 2013) or via molecular genetic analysis of putative genes