Neurologic and Cardiac Progression of Glycogenosis Type VII Over an Eight-Year Period

Josef Finsterer, MD, PhD, Claudia Stöllberger, MD, Wolfgang Kopsa, MD


South Med J. 2002;95(12) 

In This Article

Abstract and Introduction

Little is known about the progression of phosphofructokinase deficiency (glycogenosis type VII, Tarui's disease). We describe a 66-year-old woman who had this disease diagnosed in 1997. Initial manifestations had included simple partial seizures since 1977, anginal chest pain since 1982, and muscle cramps since 1983. To prevent recurrent myocardial infarction, anticoagulation therapy with phenprocumon was initiated. Cardiac involvement progressed over an 8-year period, manifesting as low-voltage electrocardiogram (ECG), ectopic supraventricular tachycardia, thickened mitral valve, mitral valve insufficiency, enlarged left atrium, left ventricular hypertrophy, and diastolic dysfunction. Progression of neurologic involvement manifested as complex partial seizures, double vision, reduced tendon reflexes, central facial palsy, bradydiadochokinesia, and distal weakness of the upper extremities. Discontinuance of oral anticoagulation after 19 years, initiation of enalapril therapy, and administration of carbamazepine markedly improved the patient's condition.

Although about 40 families with autosomal recessive muscle phosphofructokinase deficiency (glycogenosis type VII, Tarui's disease) have been reported,[1] little is known about the long-term course and progression of the disease.[2,3] We describe a patient with progressive cardiac and neurologic manifestations of the disease.