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Table 3 Blood and urine biochemistry and enzymatic activities

From: A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report

  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