Table 2.

Laboratory Values and Genetic Mutations

Case	Acylcarnitine C4 Labs Normal < 1.06 μmol/L	Ethylmalonic Acid Labs Normal = .5–20.20 μg/mg creatinine	Genotype Allele 1	Genotype Allele 2
Newborn Screened
Case 1	2.96 NBS 2.51 Repeat	247.00 265.00	505A>C 625G>A	505A>C 625G>A
Case 2	2.0 NBS 1.77 Repeat 2.04 at follow-up	330.93	319C>T	319C>T
Case 3	2.83 NBS 3.14 Repeat	67.84	529T>C	529T>C
Case 4	2.6 NBS 2.33 Repeat	249.17	319C>T	319C>T
Case 5	3.7 NBS 1.04 Repeat	41.25 41.60	625G>A	625G>A
Case 6	2.11 NBS 1.93 Repeat 1.72 at follow-up	Elevated (NA)	319C>T	991G>A
Case 7	5.16 NBS 2.38 Repeat	182.00 372.00	529T>C	988C>T
Case 8	2.86 NBS .96 Repeat	118.00	625G>A	988C>T
Identified because of Clinical Symptoms
Case 9	Normal NBS .35 at follow-up	33.29	625G>A	625G>A
Case 10	No NBS in state .74 Initial at 17 months .91 at follow-up 1.68 at follow-up	38.98	625G>A	625G>A
Case 11	Normal NBS	Normal	625G>A	511C>T
Case 12	No NBS in state 5.11 at follow-up	30.00	625G>A	511C>T
Case 13	No NBS in state 2.44 at follow-up 1.38 at follow-up	24.28	625G>A 136C>T	625G>A
Case 14	Normal NBS 1.09 at follow-up	21.96 54.42	625G>A	625G>A

^*NBS = Newborn Screening