TY - JOUR
T1 - Phosphofructokinase deficiency (Tarui disease) associated with hepatic glucuronyltransferase deficiency (Gilbert's syndrome)
T2 - A case and family study
AU - Fogelfeld, L.
AU - Sarova-Pinchas, I.
AU - Meytes, D.
AU - Barash, V.
AU - Brok-Simoni, F.
AU - Feigl, D.
PY - 1990
Y1 - 1990
N2 - 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.
AB - 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.
KW - Gilbert's syndrome
KW - Tarui disease
KW - glucuronyltransferase
KW - phosphofructokinase
UR - http://www.scopus.com/inward/record.url?scp=0025313082&partnerID=8YFLogxK
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AN - SCOPUS:0025313082
SN - 0021-2180
VL - 26
SP - 328
EP - 333
JO - Israel Journal of Medical Sciences
JF - Israel Journal of Medical Sciences
IS - 6
ER -