INFANTILE PHOSPHOFRUCTOKINASE DEFICIENCY WITH ARTHROGRYPOSIS - CLINICAL BENEFIT OF A KETOGENIC DIET

Citation
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
Citations number
10
Journal title
ISSN journal
00223476
Volume
131
Issue
6
Year of publication
1997
Pages
932 - 934
Database
ISI
SICI code
0022-3476(1997)131:6<932:IPDWA->2.0.ZU;2-N
Abstract
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.