Establishment and evaluation of a method for measuring ornithine transcarbamylase activity in micro blood of neonates

Table 1 The clinical data of two neonatal OTCD patients

NO	Gender	Amino acid levels (μmol/L)			Plasma ammonia (μmol/L)	GC/MS (μmol/mmol Cr)		Mutations	Pathogenicity	Phenotype	OTC activity (nmol/mL/h)
NO	Gender	Cit	Glu	Gln	Plasma ammonia (μmol/L)	Orotic acid	Uracil	Mutations	Pathogenicity	Phenotype	OTC activity (nmol/mL/h)
1	male	5.24	ND	ND	ND	1.39	21.46	c.1015G > C	VUS	None	36.81
2	female	3.25	ND	ND	> 1000	ND	ND	c.484G > T	LP	Death	30.83
3	male	12.91	385.58	128.87	ND	2.38	22.05	c.385C > T	LP	None	27.46

ND Not detected. Normal reference interval: Cit, 6–23.6 μmol/L; Glu, 99.77–440.79 μmol/L; Gln: 275.38–937.03 μmol/L; Plasma ammonia: 18–72 μmol/L; Orotic acid: 0–6.33 μmol/mmol Cr; Uracil: 0–38.53 μmol/mmol Cr; the normal reference interval of OTC activity: ≥ 39.6 nmol/mL/h

ISSN: 1750-1172