A NEW VARIANT CASE OF MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY, COEXISTING WITH GASTRIC-ULCER, GOUTY-ARTHRITIS, AND INCREASED HEMOLYSIS

Muscle phosphofructokinase (PFK) deficiency includes both clinically a nd genetically heterogeneous conditions. A 22-year-old man with muscle PFK deficiency due to previously unrecognized mutation was admitted b ecause of gastric ulcer. He had noticed mild fatigability on vigorous exercise, but had never experienced painful cramps and myoglobinuria. His history included five time relapses of gastric ulcer and gouty art hritis at ages 19 and 21 years. His laboratory data showing impaired m uscle glycolysis, increased hemolysis, and myogenic hyperuricemia had aspects in common with those reported for the classic form of this dis ease, except that lactate concentrations in his blood increased consid erably after exercise. The mutant PFK enzyme of this patient, who was demonstrated to have a missense mutation, could exert some catalytic a ctivity that permitted glycolytic flux in vivo, thus leading to the ab sence of typical myopathic symptoms. The association of relapsing gast ric ulcer with muscle PFK deficiency was detected for the first time. There is a possibility that oxygen radical-induced tissue damage resul ting from increased hypoxanthine on exertion plays a role in the patho genesis of ulceration, since the patient is more tolerant to exercise than reported cases with the classic form of muscle PFK deficiency. (C ) 1995 John Wiley and Sons, Inc.