Table 1.

Mutations identified in the ACADBS gene in patient cell lines

Mutation	Presentation	Treatment	Follow up “C5 carnitine” nM/ml (normal range for lab)	Outcome
Homozygous c.295 C>T in exon 3 (p.Gln99X, precursor protein)	Detected on NBS, asymptomatic	None	0.88 (<0.8)	No symptoms
Heterozygous c.443C>T in exon 4 (p.Thr148Ile, precursor protein)
Heterozygous c.1159 G>A in exon 10 (p.E387K, precursor protein)	Detected on NBS, asymptomatic	None	1.89 (<0.63)	No symptoms
Heterozygous c.50G>A, p.R13K
Heterozygous c621G>A in genomic DNA (W207X, precursor protein)	Detected on NBS, asymptomatic	None	0.25 (0.33)	No symptoms
Homozygous for this mutation in cDNA
Homozygous IVS3+1G>A	Detected on NBS, asymptomatic	None	2.58 ((<.63)	No symptoms
Homozygous IVS3+1G>A	4 year old Developmental delay, dysmorphic features	None	1.47 (<0.38)	Developmental delay, simplified brain sulci pattern, microcephaly