Kj. Swoboda et al., INFANTILE PHOSPHOFRUCTOKINASE DEFICIENCY WITH ARTHROGRYPOSIS - CLINICAL BENEFIT OF A KETOGENIC DIET, The Journal of pediatrics, 131(6), 1997, pp. 932-934
We report a 2-year-old boy with phosphofructokinase deficiency present
ing in the newborn period with congenital arthrogryposis and severe my
opathy, who has had significant improvement on a ketogenic diet since
its institution at 4 months of age. We provide a rationale for use of
this treatment and hypothesize it may be beneficial in other patients
with phosphofructokinase deficiency and progressive muscular involveme
nt. Confirmation awaits further clinical trials in carefully selected
patients.