TABLE 1.

Important laboratory findings

Laboratory exams (reference values)	Patient 1				Patient 2
Age	6 years	12 years	14 years	20 years	1 year 9 months	2 years 5 months	4 years
AST (15–50 U/L)	48	41	50	‐	‐	153	52
ALT (5–60 U/L)	121	171	39	‐	‐	460	45
Homocysteine (5–15 μmol/L)	‐	7.3	5.47	5.22	‐	54.3	‐
Methionine (9–42 μmol/L)	1533	‐	‐	33.9	1069.9	655	17.9
Serum lactate (6.3–18.9)	18.3	3.9	8	‐	‐	58.8	‐
Ammonia (11–51 μmol/L)	116	27	34	‐	‐	‐	‐