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. 2024 Feb 20;10(1):15. doi: 10.3390/ijns10010015

Figure 1.

Figure 1

(a,b) Levels of (a) C14:1 and (b) the C14:1/C2 ratio in dried blood specimens (DBSs). (c,d) Levels of (c) C14:1 in serum and (d) VLCAD activity in lymphocytes. Groups are NBS-positive infants with biallelic ACADVL variants and a VLCAD activity of <20% (A-1), 20–40% (A-2), and >40% (A-3); infants heterozygous for ACADVL variants with a VLCAD activity of 20–40% (B-1), and >40% (B-2). Infants with a VLCAD activity of >70% without confirmation by ACADVL sequencing (C). Shaded squares in (a,b) indicate the following cutoff ranges (mean ± standard deviation) across 35 regional laboratories (0.34 ± 0.06 nmol/mL for C14:1 and 0.013 ± 0.004 for the C14:1/C2 ratio). Group D includes patients with VLCAD deficiency symptoms diagnosed after clinical onset. The patients were categorized by severe phenotype (D-1), hypoglycemic phenotype (D-2), and myopathic phenotype (D-3).