No effect of triheptanoin in patients with phosphofructokinase deficiency
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DOI: 10.1016/j.nmd.2022.01.012
Abstract: Phosphofructokinase deficiency (PFKD) is a rare disorder of glycogen metabolism. The lack of phosphofructokinase activity blocks the oxidative pathway from glucose and glycogen to pyruvate. Patients suffer from myopathy, exercise intolerance, and myoglobinuria. Currently, there… read more here.
Keywords: treatment; triheptanoin; effect; phosphofructokinase deficiency ... See more keywords