C. Nakagawa et al., A NEW VARIANT CASE OF MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY, COEXISTING WITH GASTRIC-ULCER, GOUTY-ARTHRITIS, AND INCREASED HEMOLYSIS, Muscle & nerve, 1995, pp. 39-44
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.