Fig 4 | Genetics in Medicine

Fig 4

From: Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency

Fig 4

Proposed algorithm for the laboratory follow-up of neonates with isolated elevations of C4-acylcarnitine (C4-acylcarnitine) by newborn screening (NBS). Ethylmalonic acid (EMA) encephalopathy is included because anecdotal reports suggest that C5-acylcarnitine is not always elevated along with C4-acylcarnitine in newborn screening blood spots. aRoutine clinical testing is not available. AC, acylcarnitine analysis; AG, acylglycine analysis; C4AC, C4-acylcarnitine; H, elevated; IBD-D, isobutyryl-CoA dehydrogenase deficiency; IBG, isobutyrylglycine; IVG, isovalerylglycine; N, normal; OA, organic acid analysis; SCAD-D, short-chain acyl-CoA dehydrogenase deficiency.

Back to article page