Age | 4 months | 5 months | 8 months | 18 months | 30 months | 6 years Start NTBC | 6 years and 1 month | ||
---|---|---|---|---|---|---|---|---|---|
Unit | Ref range | ||||||||
BLOOD | |||||||||
PBG synthase in RBC | nkat/g Hb | 0.58-1.25 | -- | 0.51 | 0.17 | 0.05 | 0.06 | 0.11 | 0.870 |
Succinylacetone in plasma | μmol/L | < 0.1 | 0.88 | 0.13 | <0.1 | 0.33 | 0.38 | 0.27 | <0.10 |
α-Fetoprotein in serum | μg/L | <12 | -- | 28000 | 50 | 11 | <5 | <5 | <5 |
Tyrosine in plasma | μmol/L | 50-130 | 693 | 36 | 73 | 96 | 112 | 130 | 381 |
Phenylalanine in plasma | μmol/L | 40-120 | 196 | 57 | 72 | 70 | 83 | 89 | 45 |
Methionine in plasma | μmol/L | 20-50 | 1300 | 400 | 30 | 20 | 39 | 34 | 15 |
URINE | |||||||||
5-Aminolevulinic acid | mmol/mol creatinine | 0-3 | 6.9 | 5.3 | 8.8 | 25 | 17 | 7.9 | 3.5 |
Succinylacetone | mmol/mol creatinine | <1 | <1 | <1 | <1 | <1 | 1.1 | 0.3 | <0.1 |
Succinylacetoacetate | mmol/mol creatinine | <1 | <1 | <1 | <1 | <1 | <1 | <0.3 | <0.1 |
4-oxo-6-hydroxyheptanoic acid | mmol/mol creatinine | <1 | 4 | 1 | 2 | 8 | 4.2 | 6 | <0.1 |
NTBC in serum | μmol/L | -- | -- | -- | -- | -- | -- | 28.7 |