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Infantile phosphofructokinase deficiency with arthrogryposis: clinical benefit of a ketogenic diet
K J Swoboda1, L Specht, H R Jones
1Department of Genetics and Metabolism, Children's Hospital, Boston, MA 02115, USA.
Insights
A ketogenic diet significantly improved a boy with phosphofructokinase deficiency, congenital arthrogryposis, and myopathy. This dietary approach may benefit other patients with progressive muscular involvement due to this condition.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Phosphofructokinase (PFK) deficiency is a rare genetic disorder impacting muscle energy metabolism.
- Congenital arthrogryposis and severe myopathy are debilitating manifestations of PFK deficiency presenting in newborns.
- Current treatment options for PFK deficiency are limited, necessitating exploration of novel therapeutic strategies.
Abstract:
We report a 2-year-old boy with phosphofructokinase deficiency presenting in the newborn period with congenital arthrogryposis and severe myopathy, 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 involvement. Confirmation awaits further clinical trials in carefully selected patients.