Journal of Inherited Metabolic Disease

, Volume 8, Issue 4, pp 169–173 | Cite as

Biochemical observations on a case of hepatic fructose-1,6-diphosphatase deficiency

  • F. A. Hommes
  • R. Campbell
  • C. Steinhart
  • R. A. Roesel
  • F. Bowyer
Article

Abstract

A case of hepatic fructose-1,6-diphosphatase deficiency is described. She presented with congenital bilateral cataracts, failure to thrive, hypoglycaemia and hyperlactacidaemia. A liver biopsy revealed normal levels of gluconeogenic enzymes except fructose-1,6-diphosphatase which was present at 30% of the level of the lower control values. The residual activity had a normal affinity for fructose-1,6-diphosphate, a decreased sensitivity for inhibition by fructose-2,6-diphosphate and an increased resistance toward conversion to the AMP-insensitive form of the enzyme. As a result of this mutation, the residual FDPase will always be maintained in the AMP-inhibited form.

Keywords

Public Health Internal Medicine Normal Level Metabolic Disease Cataract 

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Copyright information

© SSIEM and MTP Press Limited 1985

Authors and Affiliations

  • F. A. Hommes
    • 1
    • 4
  • R. Campbell
    • 2
  • C. Steinhart
    • 3
  • R. A. Roesel
    • 1
    • 4
  • F. Bowyer
    • 3
    • 5
  1. 1.Department of Cell and Molecular BiologyMedical College of GeorgiaAugustaUSA
  2. 2.Section of Pediatric Neurology, Department of NeurologyMedical College of GeorgiaAugustaUSA
  3. 3.Departments of Pediatrics and SurgeryMedical College of GeorgiaAustaUSA
  4. 4.Gracewood State School and HospitalGracewoodUSA
  5. 5.Department of Pediatrics, Medical Center of Central GeorgiaMaconUSA

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