Enzyme deficiency | CPK | Myoglobinuria | Muscle glycogen present/abnormal | Clinical features |
Muscle glycogen synthase deficiency (GSD 0b) | Normal | Not reported, present in an equine model | Reduced glycogen content | Cardiomyopathy Progressive weakness |
Lysosomal acid maltase deficiency (GSD II) | Increased | Absent | Increased lysosomal glycogen | Hypotonia in infants Cardiomyopathy Progressive weakness |
Glycogen debrancher deficiency (GSD III) | Increased | Absent | Increased in >90% of cases | Progressive weakness Cardiomyopathy |
Glycogen branching enzyme deficiency (GSD IV) | Normal | Absent | Polyglucosan | Highly variable age of onset Neurologic involvement Liver disease Cardiomyopathy |
Muscle phosphorylase deficiency (GSD V) | Increased | Present | Increased | Acute muscle pain Progressive weakness |
Phosphofructokinase deficiency (GSD VII) | Increased | Present | Increased Occasional polyglucosan | Exercise intolerance Occasional gout |
Phosphoglycerate kinase deficiency | Increased | Present | Increased | Exercise intolerance Variable neurologic involvement Hemolysis |
Phosphorylase kinase deficiency (GSD IXd) | Increased | Absent | Increased | Exercise intolerance |
Phosphoglycerate mutase deficiency (GSD X) | Increased | Present | Increased | Exercise intolerance Variable neurologic involvement Hemolysis |
Lactate dehydrogenase A deficiency | Increased | Present | Increased | Exercise intolerance |
Aldolase A deficiency (GSD XII) | Increased | Present | Increased | Myopathy Variable hemolysis |
Beta-enolase deficiency (GSD XIII) | Increased | Present | Increased or normal | Exercise intolerance |
Phosphoglucomutase 1 deficiency (GSD XIV) | Increased | Present | Increased or normal | Exercise intolerance Dilated cardiomyopathy Protein glycosylation defects |
Glycogenin-1 deficiency (GSD XV) | Normal | Absent | Polyglucosan/reduced normal glycogen | Cardiomyopathy Progressive weakness |
RBCK1/ HOIL-1 deficiency | Increased | Absent | Polyglucosan/reduced normal glycogen | Progressive weakness Cardiomyopathy Increased infections |
Gamma subunit of AMP-activated protein kinase (PRKAG2) dysfunction | Normal | Absent | Increased glycogen/variable polyglucosan | Cardiomyopathy Wolff-Parkinson-White syndrome Atrioventricular conduction block |
LAMP 2 deficiency (formerly GSD IIb) | Increased | Absent | Increased nonlysosomal glycogen | Cardiomyopathy Skeletal myopathy Neurologic involvement Females also affected |
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