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Comparative Study
. 1990 May;149(8):574-6.
doi: 10.1007/BF01957696.

Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency

P Bührdel  1 , H J Böhme, L Didt
Affiliations
Comparative Study

Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency

P Bührdel et al. Eur J Pediatr. 1990 May.

Abstract

Three boys and one girl suffering from inherited fructose-1,6-diphosphatase (FDPase) deficiency are reported. All four patients had less than 25% residual hepatic FDPase activity. While in two out of three patients the enzyme deficiency was also expressed in leucocytes, one patient had a normal enzyme activity. Remarkably, three patients had pronounced neonatal hyperbilirubinaemia requiring exchange transfusion.

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References

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