Screening for inborn errors of metabolism in high-risk children: a 3-year pilot study in Zhejiang Province, China

BMC Pediatrics

Table 3 Abnormal MS/MS results of fatty acid oxidation disorders

Fatty acid oxidation disorders (n = 9)	n (%)	Age at diagnosis	Abnormal parameter	Concentration mean (range) (μmol/l)	Reference range (μmol/l)
Primary carnitine deficiency	8 (89%)	0.6-89 mon	C0	9.7 (0.87-14.10)	15.0-95.03
			C2	5.5 (2.3-6.6)	9.82-39.9
			C6	0.49	0.0-0.37
Medium-chain acyl-CoA dehydrogenase	1 (11%)	2 mon	C8	0.54	0.0-0.33
			C10:1	0.55	0.0-0.33

ISSN: 1471-2431