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. 2020 Aug 16;56(1):70–81. doi: 10.1002/jmd2.12153

FIGURE 2.

FIGURE 2

Pro:Leu vs Ala:Leu plots for a cohort of 104 patients born in Ohio and followed at one institution (UHCMC). A, Newborn screening (NBS) dried blood spot (DBS) and, B, plasma specimens used for plasma amino acids (PAA) analysis, respectively. Subjects shown in red dots satisfy the combined Ala:Leu ≥4.0 and Pro:Leu ≥3.0 criterion (combined Ala:Leu ≥4.0 and Pro:Leu ≥3.0 ratio criterion [CRC]; dashed rectangle). The responsible mutated gene in subjects (red dots) with confirmed pathogenic variants is noted. Among the 104 patients (55 males, 49 females), the average ± SD (min, max) of gestational age, birth weight, DBS collection time (hours of life [HOL]), and time of first plasma draw for amino acids analysis (days of life [DOL]) were 35 ± 5 weeks (23, 41), 2,527 ± 969 g (525, 4,225), 28 ± 6 HOL (2, 51), and 72 ± 102 DOL (1, 503), respectively