Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency

Table 2 Biomarkers and genetic data of the patients

Age	Acylcarnitines [μmol/l]				Dicarboxylic Acids in Urine	Molecular Genetics
Age	C16-OH (^c)		C18:1-OH (^c)		Dicarboxylic Acids in Urine	Molecular Genetics
Patient 1						HADHA gene: c.1528G > C (p.E510Q), homozygous
2 days^a	1.62	(< 0.05)	0.46	(< 0.04)
11 days^a	0.49	(< 0.05)	0.29	(< 0.04)	normal
4 months^b	15.41	(< 0.17)	10.67	(< 0.10)	elevated
Patient 2						HADHB gene: c.1198G > T (p.E400X)/c.442 + 663A > G, compound heterozygous
2 days^a	0.35	(< 0.05)	0.06	(< 0.04)
7 days^a	0.44	(< 0.05)	0.08	(< 0.04)	normal
8 months^b	0.045	(< 0.01)	0.055	(< 0.01)	elevated
Patient 3						HADHA gene: c.1528G > C (p.E510Q), homozygous
5 days^a	0.31	(< 0.12)	0.47	(< 0.16)	n.a.
5 months^b	0.98	(< 0.10)	0.74	(< 0.10)	elevated

Symbols and abbreviations are as follows: ^a filter paper, ^b plasma, collected in metabolic decompensation, ^ccut-off, n.a. = not available

ISSN: 1750-1172