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Table 1 Clinical characteristics of study patients with glycogen storage disease

From: Patients with glycogen storage diseases undergoing anesthesia: a case series

 

Clinical presentation

Pt

Neurologic/Muscular

Other

GSD type 0

 1

Muscle weakness

OSA; hypertrophic cardiomyopathy; hypertension

GSD type I (von Gierke)

 2

Muscle weakness; gait abnormalities

Lactic acidosis; hypoglycemia; hepatic adenoma

 3

None reported

Hypoglycemia

 4

None reported

Hypertension; hypoglycemia; lactic acidosis

 5

Seizures

Hyperuricemia; lactic acidosis; hypoglycemia

 6

Developmental delay; velopharyngeal insufficiency

Hypoglycemia

 7

Fatigue, muscle weakness

Hypoglycemia

GSD type II (Pompe)

 8

Severe scoliosis; muscle weakness; wheelchair-bound

Respiratory failure (BiPAP); restricted lung disease

 9

Muscle weakness; hypotonia

None reported

 10

Muscle weakness

Respiratory failure (BiPAP); pulmonary hypertension; CHF; dilated cardiomyopathy; atrial fibrillation

 11

Muscle weakness

None reported

 12

Muscle weakness

CHF; dilated cardiomyopathy

 13

Muscle weakness

Respiratory failure (BiPAP)

 14

Muscle weakness

Dyspnea; hypertension

 15

None reported

Hypertrophic cardiomyopathy; ventricular tachycardia

GSD type IV (Andersen)

 16

Developmental delay

Hepatosplenomegaly

GSD type V (McArdle)

 17

Muscle weakness; cervical radiculopathy

None reported

 18

Muscle stiffness; increased serum creatine kinase

None reported

 19

Muscle weakness

None reported

 20

Muscle weakness

None reported

 21

Muscle cramps; exercise intolerance

None reported

 22

Exercise intolerance

None reported

 23

Muscle weakness

None reported

 24

Muscle weakness and stiffness

None reported

 25

Muscle weakness

None reported

 26

Episodes of rhabdomyolysis; exercise intolerance

None reported

 27

Muscle weakness

Hypertension

GSD type VI (Hers)

 28

None reported

Lactic acidosis

GSD type VII (Tarui)

 29

Muscle weakness

None reported

Unidentified, likely glycolytic defect

 30

Proximal muscle myopathy

Hypoglycemia

  1. Abbreviations: BiPAP bilevel positive airway pressure, CHF congestive heart failure, GI gastrointestinal, MH malignant hyperthermia, OSA obstructive sleep apnea, Pt patient