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Table 1 Liver enzyme activities

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

  Biopsy I Biopsy II Tyr type III Controls
FAH 2.2 1.8 33 41 (38.8-46.4)
4-HPD 11 8.7 0.2 15 (10.8-18.4)
ASAT 3472 2669 2490 1731,1641
ALAT 700 810 1340 665, 1034
LDH 3315 2223 3420 3755, 3045
  1. Column 1 shows the result of a first biopsy in the presented patient (at diagnosis), the second column of a confirmatory biopsy in the same patient. Column 3 shows the results in a type III tyrosinemia, for comparison. The last column shows control values. FAH is clearly decreased, but measurable in both biopsies in our patient (approx. 5% of normal). 4-HPD is unexpectedly not equally decreased as would be expected in type I tyrosinemia, also contrasting with the value measured in the type III tyrosinemia biopsy. The fact that 4-HPD is not decreased, is compatible with the absence of SA and SAA in our patient. ASAT, ALAT and LDH are internal controls, demonstrating the quality of the tissue samples used.
  2. FAH: fumarylacetoacetate hydrolase; 4-HPD: 4-hydroxyphenylpyruvate dioxygenase; ASAT: aspartate transaminase; ALAT: alanine transaminase; LDH: lactate dehydrogenase