Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening, In Silico Predictions, and Molecular Studies

Table 1

Newborn screening acylcarnitines results and molecular analysis of MCADD patients identified by LC-MS/MS NBS since 2002.

Patient	C8	C6	C10	C10:1	C8/C6	C8/C10	Nucleotide changes	Mutations	Mutation references
1	4.02	0.67	0.39	—	6	10.3	c.253G>C/c.253G>C	p.Gly85Arg/p.Gly85Arg	This work/this work
2	15.36	1.85	1.72	10.33	8.3	8.93	c.356T>A/c.244dupT	p.Val119Asp/p.Trp82Leufs*23	This work/[19]
3	3.87	0.79	1.13	0.42	4.89	3.34	c.728G>A/c.199T>C	p.Arg243Gln/p.Tyr67His	[20]/[21]
4	9.5	1.15	0.83	0.64	8.26	11.44	c.823G>T/c.823G>T	p.Gly275 * /p.Gly275 *	This work/this work
5	41.18	2.01	3.59	0.95	20.48	11.47	c.356T>A/c.946-2A>C	p.Val119Asp/IVS10-2A>C	This work/[7]
6	13.42	1.44	1.14	0.48	9.32	11.77	c.985A>G/c.431_434delAGTA	p.Lys329Glu/p.Lys144Ilefs*5	[22]/[23]
7	1.3	0.32	0.87	0.55	4.06	1.49	c.985A>G/c.127G>A	p.Lys329Glu/p.Glu43Lys	[22]/[23]
8	6.96	1.24	1.26	0.54	5.61	5.52	c.985A>G/c.799G>A	p.Lys329Glu/p.Gly267Arg	[22]/[24]
9	8.79	0.76	0.69	0.5	11.56	12.73	c.985A>G/c.985A>G	p.Lys329Glu/p.Lys329Glu	[22]/[22]
10	9.77	0.9	0.82	0.72	10.85	11.91	c.985A>G/c.985A>G	p.Lys329Glu/p.Lys329Glu	[22]/[22]
11	26.7	3.35	3.03	0.9	7.97	8.81	c.985A>G/c.985A>G	p.Lys329Glu/p.Lys329Glu	[22]/[22]
12	15.4	2.2	0.98	1.33	7	15.71	c.244dupT/c.244dupT	p.Trp82Leufs*23/p.Trp82Leufs*23	[19]/[19]
13	25.1	2.53	2.41	1.48	9.92	10.41	c.244dupT/c.244dupT	p.Trp82Leufs*23/p.Trp82Leufs*23	[19]/[19]
14	0.75	0.18	0.04	0.35	4.16	18.75	c.244dupT/c.244dupT	p.Trp82Leufs*23/p.Trp82Leufs*23	[19]/[19]

Acylcarnitines normal values: C8 < 0.31 𝜇mol/L, C6 < 0.25 𝜇mol/L, C10 < 0.36 𝜇mol/L, C10:1 < 0.50 𝜇mol/L, C8/C6 0.85–3 𝜇Mmol/L, and C8/C10 0.33–1.6 𝜇Mmol/L.
ACADM gene reference sequence NM_000016.4; in bold characters are indicated the new mutations found.