. 2011 Dec 13;5:1–6. doi: 10.1007/8904_2011_109

Table 1.

Metabolic data of 19 patients diagnosed with homocystinurias

Disorder (number of cases)	NBS results (assayed in newborn period)		tHcy in DBS (assayed after storage)	Sample storage
Disorder (number of cases)	Met (cutoff <5 or >75) μmol/L	C3 (cutoff >8.5) μmol/L	Reference range 5.4–10.7 (current) 1.7–5.5 (stored) μmol/L	Sample storage
CBS (6 cases, 7 samples)^a	120–470	0.6–3.2	21.2–46.6	4 m^c to 10 y^d
cblC (10)^b	6.3–19.3	6.6–16	11.1–186.3	1 m to 15 y
cblG (2)	16 and 21	2.1 and 5.6	13.5 and 25.8	4 and 16 y
MTHFR (1)	16	2.1	93.4	2 y

^aThe actual Met levels of CBS patients are 120, 150, 190, 190, 250, 350, and 470 μmol/L

^bThe actual Met levels of cblC patients are 6.3, 7.5, 8.1, 10.9, 16.6, 19.3 μmol/L. Four samples were quantified prior to tandem mass spectrometry (MS/MS) use in NBS

^cm month

^dy years