Clinical and laboratory features of muscle enzyme deficiencies of glycogen metabolism

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

AMP: adenosine monophosphate; CPK: creatinine phosphokinase; GSD: glycogen storage disease; HOIL-1: heme-oxidized IRP2 ubiquitin ligase 1; LAMP 2: lysosome-associated membrane protein 2; RBCK1: RanBP-type and C3HC4-type zinc finger containing 1.

Courtesy of William J Craigen, MD, PhD.

Graphic 106089 Version 2.0

خرید پکیج

Clinical and laboratory features of muscle enzyme deficiencies of glycogen metabolism