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خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
نسخه الکترونیک
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Disorders of glycogen/glucose metabolism

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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