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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