Phosphofructokinase deficiency (Tarui disease) associated with hepatic glucuronyltransferase deficiency (Gilbert's syndrome): A case and family study

L. Fogelfeld, I. Sarova-Pinchas, D. Meytes, V. Barash, F. Brok-Simoni, D. Feigl

Research output: Contribution to journalArticlepeer-review

Abstract

Tarui disease is a rare, genetically determined glycogen storage myopathy caused by the total lack of phosphofructokinase (PFK) enzymatic activity in the muscles and partially deficient enzymatic activity in the erythrocytes. We describe a patient with this disorder, who presented with exercise intolerance, painful cramps, elevation of muscle enzyme levels in the serum, compensated hemolysis with paradoxically elevated hemoglobin levels and gout with overproduction of uric acid. This patient had a partial hepatic uridine diphosphoglucuronate-glucuronyltransferase deficiency (Gilbert's syndrome). The coexistence of these two enzymatic deficiencies resulted in a complex clinical picture, especially during and after muscular effort. Screening of the patient's family revealed asymptomatic PFK deficiency in the erythrocytes of both parents and sister.

Original languageEnglish
Pages (from-to)328-333
Number of pages6
JournalIsrael Journal of Medical Sciences
Volume26
Issue number6
StatePublished - 1990
Externally publishedYes

Keywords

  • Gilbert's syndrome
  • Tarui disease
  • glucuronyltransferase
  • phosphofructokinase

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