Disorders of glycogen/glucose metabolism

Classification	Key clinical findings	Diagnosis	Therapy
GSD 0a (MIM #240600, glycogen synthase 2 deficiency in liver)	Ketotic hypoglycemia No hepatomegaly	Liver biopsy and enzyme testing DNA testing	Uncooked cornstarch Commercial glucose polymers (eg, Glycosade) Liver transplantation
GSD 0b (MIM #611556, muscle glycogen synthase deficiency)	Cardiomyopathy Exercise intolerance Weakness	Muscle biopsy (glycogen depletion) Enzyme assay DNA testing	No specific treatment
GSD I (MIM #232200; GSD Ia, von Gierke disease, glucose-6-phosphatase deficiency; GSD Ib due to q transport defect)	Ketotic hypoglycemia Hepatomegaly	DNA testing Liver biopsy Enzyme assay	Uncooked cornstarch Allopurinol Granulocyte colony-stimulating factor (G-CSF) Commercial glucose polymers (eg, Glycosade) Liver transplantation
Lysosomal acid maltase deficiency (MIM #232300, Pompe disease, GSD II*)	Hypotonia Muscle weakness Hypertrophic cardiomyopathy Rhabdomyolysis	Fibroblast, leukocyte, muscle, or liver enzyme assay DNA testing	Enzyme replacement therapy Commercial glucose polymers (eg, Glycosade) Liver transplantation
Lysosome-associated membrane protein 2 (LAMP2) deficiency (MIM #300257, Danon disease, GSD IIb^*)	Hypotonia Hypertrophic cardiomyopathy Rhabdomyolysis	Muscle biopsy DNA testing	No specific treatment
GSD III (MIM #232400, glycogen debrancher deficiency)	Ketotic hypoglycemia Hepatomegaly	Fibroblast or liver enzyme assay DNA testing	Uncooked cornstarch Commercial glucose polymers (eg, Glycosade) Liver transplantation
GSD IV (MIM #232500, glycogen branching enzyme deficiency)	Hepatomegaly Cirrhosis Rare neuromuscular presentations, such as fetal akinesia sequence, myopathy, axonal neuropathy, adult polyglucosan body disease	Fibroblast, muscle, or liver biopsy DNA testing	Commercial glucose polymers (eg, Glycosade) Liver transplantation
GSD V (MIM #232600, McArdle disease, muscle phosphorylase deficiency)	Fatigability Myoglobinuria Rhabdomyolysis	Muscle biopsy Muscle enzyme assay DNA testing	Sucrose prior to exercise
GSD VI (MIM #232700, Hers disease, liver phosphorylase deficiency)	Hepatomegaly Mild hypoglycemia	Liver biopsy and enzyme assay DNA testing	Commercial glucose polymers (eg, Glycosade) Liver transplantation
GSD VII (MIM #232800, Tarui disease, phosphofructokinase deficiency in muscle)	Fatigability Myoglobinuria Rhabdomyolysis	Muscle enzyme assay DNA testing	No specific treatment
Phosphoglycerate kinase deficiency (MIM #311800)	Hemolysis Fatigability Myoglobinuria CNS dysfunction Rhabdomyolysis	Muscle/RBC enzyme assay DNA testing	Bone marrow transplantation
GSD IX (phosphorylase kinase deficiency; IX a1, MIM #306000, formerly GSD VIII, alpha-2 subunit defect in liver; IXb, MIM #261750, beta subunit defect in liver; IXc, MIM #613027, gamma subunit defect in liver and muscle; IXd, MIM #300559, alpha subunit defect in muscle)	Hepatomegaly Mild hypoglycemia Fatigability Exercise intolerance	Liver/muscle biopsy Enzyme assay DNA testing	Commercial glucose polymers (eg, Glycosade) Liver transplantation
GSD X (MIM #261670, phosphoglycerate mutase deficiency)	Fatigability Myoglobinuria Exercise intolerance Rhabdomyolysis	Muscle biopsy and enzyme assay DNA testing	No specific treatment
GSD XI (MIM #612933; lactate dehydrogenase A [LDHA, MIM #150000] deficiency and lactate dehydrogenase B deficiency [LDHB, MIM #150100])	Fatigability Myoglobinuria Rhabdomyolysis	Muscle or RBC enzyme assay DNA testing	No specific treatment
GLUT2 deficiency (MIM #138160; Fanconi-Bickel syndrome)	Growth retardation Renal Fanconi syndrome Galactosemia	Clinical features DNA testing	Frequent, small meals Uncooked cornstarch or nocturnal enteral nutrition Electrolytes, carnitine, and vitamin D as needed Restriction of galactose
GSD XII (MIM #611881, aldolase A deficiency)	Hemolysis Jaundice Myoglobinuria Muscle weakness Fatigability Rhabdomyolysis	Muscle or RBC enzyme assay DNA testing	No specific treatment
GSD XIII (MIM #612932, beta-enolase deficiency in muscle)	Exercise intolerance Increased CPK Rhabdomyolysis	Muscle biopsy Enzyme assay DNA testing	No specific treatment
GSD XIV (MIM #612934, phosphoglucomutase 1 deficiency in muscle)	Exercise intolerance Myoglobinuria Increased CPK Rhabdomyolysis Myoglobinuria	Muscle biopsy Enzyme assay DNA testing	No specific treatment
GSD XV (MIM #613507, glycogenin 1 deficiency in muscle)	Muscle weakness Arrhythmias	Muscle biopsy (glycogen depletion) DNA testing	No specific treatment

GSD: glycogen storage disease; CNS: central nervous system; RBC: red blood cell; GLUT2: glucose transporter 2; CPK: creatine phosphokinase.
* These diseases were originally classified as GSDs. It was subsequently recognized that the accumulation of glycogen in lysosomes seen in these diseases is due to defective lysosomal metabolism rather than energy deficiency from glycogen/glucose metabolism. Thus, they are considered both GSDs and lysosomal storage diseases.

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خرید پکیج

Disorders of glycogen/glucose metabolism