Table 1.

Comparison between NBS-positive infants and symptomatic patients according to the classifications used in the present study.

Groups and Descriptions of Infants with NBS-Positive Results for VLCAD Deficiency (Groups A–C) and Symptomatic Patients (Group D)		n	Case ID *1	VLCAD Activity *2
Group A-1	Biallelic ACADVL variants detected, VLCAD activity lower than 20%	73	N-01 to N-73	0.36–19.88% (10.28 ± 5.13)
Group A-2	Biallelic ACADVL variants detected, VLCAD activity between 20% and 40%	19	N-74 to N-92	20.32–38.70% (27.01 ± 5.35)
Group A-3	Biallelic ACADVL variants detected, VLCAD activity higher than 40%	3	N-93 to N-95	40.55–58.73%, 62.00%
Group B-1	Heterozygous ACADVL variants detected, VLCAD activity between 20% and 40%	23	N-96 to N-118	21.62–39.35% (31.80 ± 5.56)
Group B-2	Heterozygous ACADVL variants detected, VLCAD activity higher than 40%	16	N-119 to N-134	40.66–71.32% (51.74 ± 9.17)
Group C	VLCAD activity higher than 70% without confirmation with ACADVL sequencing	41	N-135 to N-175	70.27–208.67% (107.96 ± 29.43)
Group D-1	Severe phenotype	2	S-01, S-02	0.81–2.59%
Group D-2	Hypoglycemic phenotype	4	S-03 to S-06	2.75–9.75%
Group D-3	Myopathic phenotype	8	S-07 to S-14	6.41–13.72%

Abbreviations: NBS, newborn screening; VLCAD, very-long-chain acyl-CoA dehydrogenase. *¹ Detailed data on NBS and confirmatory tests for each infant are presented in Supplementary Tables S1 and S2. Diagnostic findings of symptomatic patients are presented in Supplementary Table S1. *² Mean (± standard deviation) VLCAD activity in 54 normal control adults is 149.9 ± 57.1 pmol/min/10⁶ cells.