BRD2 and metabolic disease: Molecular genetic testing revealed a pathogenic splice site variant (c.685-2A>G) and a variant of uncertain significance (c.1256G>T) with evidence of pathogenicity in the <i>D2HGDH</i> gene, consistent with a molecular diagnosis of D-2-hydroxyglutaric aciduria type I (OMIM #600721).<h4>Conclusion</h4>Since several metabolic disorders, including D-2-hydroxyglutaric aciduria type I, can present solely with symptoms suggestive of NAT (subdural and retinal hemorrhages), an early metabolic evaluation by urine organic acid analysis should be included in clinical protocols evaluating NAT.