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Glycogen Storage Diseases Types I-VII: Differential Diagnoses & Workup
Updated: Mar 10, 2009
- Overview
- Differential Diagnoses & Workup
- Treatment & Medication
- Follow-up
- Multimedia
Differential Diagnoses
Other Problems to Be Considered
Glycogen storage disease type I
Fructose-1,6-biphosphatase deficiency
Fructose-1-phosphate aldolase deficiency (hereditary fructose intolerance)
Congenital lactic acidosis
GSD type III
GSD type IV
GSD type VI
Niemann-Pick disease, type A
Hyperlipoproteinemia type 1
Disorders of uric acid metabolism
Glycogen storage disease type II
Danon disease (vacuolar cardiomyopathy, skeletal myopathy) caused by mutations of a structural lysosomal protein while the activity of acid maltase is normal
Werdnig-Hoffmann disease
Congenital myopathies
Neurovisceral sphingolipidosis
Ethanol aminosis
Deficiencies of PFK and phosphorylase b kinase
Duchenne muscular dystrophy, especially in the juvenile and adult forms
Organic acidurias
Mitochondrial disorders
Glycogen storage disease type III
Charcot-Marie-Tooth disease
Other myopathies
GSD type I
GSD type II
GSD type IV
GSD type VI
Glycogen storage disease type IV
GSD type II
Other disorders of the neuromuscular system
Galactosemia (galactose-1-phosphate uridyltransferase deficiency)
Organic acidurias
Glycogen storage disease type V
Inflammatory myopathies
GSD type VII
GSD type III
Glycogen storage disease type VI
Other forms of hepatic glycogenoses
Glycogen storage disease type VII
GSD type V
Workup
Laboratory Studies
- GSD type I: Serum glucose and blood pH levels are frequently decreased, while the serum lactate, uric acid, triglyceride, and cholesterol levels are elevated. Urea and creatinine levels might be elevated when renal function is impaired. The following laboratory values should be obtained:
- Serum glucose and electrolyte levels (Higher anion gap may suggest lactic acidosis.)
- Serum lactate level
- Blood pH
- Serum uric acid level
- Serum triglyceride and cholesterol levels
- Gamma glutamyltransferase level
- CBC and differential (eg, anemia, leukopenia, neutropenia)
- Coagulation
- Urinalysis for aminoaciduria, proteinuria, and microalbuminuria in older patients
- Urinary excretion levels of uric acid and calcium
- Serum alkaline phosphatase, calcium, phosphorus, urea, and creatinine levels
- GSD type II
- Findings on laboratory analyses are usually normal.
- Rarely, creatine kinase (CK) levels are elevated because of skeletal muscle involvement. Rarely, serum aspartate aminotransferase levels are elevated in infants with liver lesions.
- Definitive diagnosis requires measurement of the activity of acid alpha-1,4-glucosidase.
- Skin fibroblast culture or peripheral blood lymphocytes should be used in enzymatic assay.
- Diagnosis may be missed if lymphocyte culture is mixed with granulocytes that contain a renal isoform of acid maltase.
- Molecular analysis should be performed for prenatal diagnosis.
- GSD type III
- Fasting hypoglycemia and ketonuria may be noted.
- Hyperlipidemia may be present.
- Serum aminotransferase and CK levels may be elevated. Baseline levels of CK do not exclude GSD type III. In GSD type IIIb, serum aminotransferase levels are elevated during childhood but usually normalize at puberty.
- Usually, serum lactate and uric acid levels are in the reference range.
- GSD type IV
- Serum aminotransferase levels are elevated.
- Fasting hypoglycemia is present in some patients.
- GSD type V
- The main laboratory sign of disease is elevated levels of serum CK at rest. After intensive exercise, CK levels increase further.
- At the same time, the blood ammonia, inosine, hypoxanthine, and uric acid concentrations are above the reference range. Activities of muscle phosphorylase may be extremely low.
- Differentiate patients with McArdle disease from patients with other inflammatory myopathies.
- In addition, GSD type VII has the same clinical manifestations and can be differentiated on the basis of enzymatic study only. The forearm ischemic test, a useful diagnostic test, can produce abnormal results in patients with GSD type VII and in patients with debranching enzyme deficiency (GSD type III) when it is performed after fasting.
- GSD type VI
- Serum aminotransferase levels are elevated.
- Hypoglycemia, ketosis, and hyperlipidemia are rare and usually mild.
- Serum lactic and uric acids levels are baseline.
- GSD type VII
- CK levels are elevated.
- Erythrocyte, hemoglobin, and reticulocyte counts, and serum unconjugated bilirubin concentration are important diagnostic measurements in patients with hemolysis.
Imaging Studies
- In GSD type I, liver and kidney ultrasonography should be performed for follow-up of organomegaly and detection of hepatic adenomas and nephrocalcinosis.
- Because of the risk of long-term complications, current guidelines recommend abdominal ultrasonography with tumor marker levels (eg, alpha-fetoprotein [AFP], carcinoembryonic antigen [CEA]) every 3 months if the patient develops hepatic lesions. Abdominal CT scanning or MRI is advised whenever the lesions are large, poorly defined, or are growing rapidly.
Glycogen storage disease type I. Abdominal sonogram showing large nodules in the liver.
- In GSD type II, echocardiography may be performed. It is noninvasive and useful for detection of cardiac muscle involvement. Occasionally, only the left ventricle may be affected. In advanced disease, evaluating the functional reserve of the heart may be helpful.
- In GSD type III, echosonography may be performed. It is a noninvasive method that can provide useful information about the size of the liver, spleen, and heart.
- In GSD types V and VII, MRI with phosphate-31 is a useful noninvasive method for the investigation of muscle metabolism.
- In GSD type VI, echosonography is performed for liver measurement.
Other Tests
- GSD type I
- Glucagon and epinephrine tests do not cause a rise in glucose levels, but plasma levels of lactic acid are raised.
- Orally administered galactose and fructose (1.75 g/kg) do not increase glucose levels, but plasma lactic acid levels do increase.
- Glucose tolerance test (1.75 g/kg PO) progressively lowers lactic acid levels over several hours after the administration of glucose.
- GSD type II
- ECG is characteristic with shortening of the PR interval and large QRS complex.
- Electromyography (EMG) reveals a myopathic pattern in all patients with pseudomyotonic discharge. Many patients have fibrillation potentials.
- Nerve conduction velocities are in the reference range.
- GSD type III
- In the glucose tolerance test, serum lactate levels increase from the basal levels during the test, gradually returning to baseline values thereafter.
- Orally administered galactose and fructose are converted into glucose because gluconeogenesis is unaffected.
- Ingested amino acids and proteins induce a moderate but prolonged increase in blood glucose levels.
- The response of blood glucose levels to the administration of glucagon and epinephrine varies. Glucagon administered after a fasting period does not induce a rise in glycemia; however, if glucagon is administered 2 hours after a meal, it produces an increase in blood glucose levels.
- EMG findings are compatible with skeletal myopathy, and peripheral nerve conduction velocities may be abnormal.
- ECG changes suggest ventricular hypertrophy, but signs of significant cardiac dysfunction are rarely observed.
- GSD type V
- The forearm ischemic test is a useful diagnostic test. Lack of an increase in blood lactate concentration and exaggerated increase in ammonia concentration simultaneously are reliable signs of disturbed glycogen metabolism in the skeletal muscle.
- Occasionally, EMG changes may be similar to those of some nonspecific inflammatory myopathies.
- GSD type VI: Diagnosis rests with histologic analysis of liver tissue or determination of the activity of the enzymes hepatic phosphorylase in the liver and phosphorylase b kinase in the liver, skeletal muscle, and heart.
- GSD type VII
- The forearm ischemic exercise test is a useful diagnostic test.
- EMG should be performed.
Procedures
- GSD type I
- For diagnostic purposes, 13C nuclear magnetic resonance spectroscopy may be used for enzyme function assessment.
- Definitive diagnosis requires determination of G6Pase activity in fresh and frozen liver tissue specimens and/or DNA-based analysis. When assaying for translocases, an open surgical liver biopsy is needed for sampling an adequate tissue specimen.
- GSD type II
- Skin biopsy should be performed to determine the activity of the enzyme in fibroblast culture.
- Amniocentesis is necessary for amniotic fluid or chorion biopsy with the aim of prenatal diagnosis.
- GSD type III: Biopsy of the liver and skeletal muscle should be performed for enzyme activity measurements.
- GSD type IV
- Liver and skeletal muscle biopsies are needed for enzyme activity and microscopic analysis.
- Glucose tolerance test results are in the reference range.
- Glucagon and epinephrine test results vary.
- Glycogen content in tissues is usually in the reference range, but its structure is abnormal.
- GSD type V
- Muscle biopsy should be performed.
- Molecular DNA analysis or analysis of the functional activities of myophosphorylase is necessary for definitive diagnosis of McArdle disease.
- Prenatal diagnosis is unnecessary.
- GSD type VI: Skeletal muscle and liver biopsy should be performed for microscopic and enzymatic analysis.
- GSD type VII: Muscle biopsy should be performed for microscopic and enzymatic analysis.
Histologic Findings
In GSD type I, no specific findings occur in the liver, but higher amounts of normal glycogen, as well as fatty infiltration, are found. Histologic findings in the kidneys comprise focal glomerular sclerosis, interstitial fibrosis, tubule atrophy or vacuolization, and significant atherosclerosis. A conspicuous glomerular hypertrophy occurs, and less commonly, numerous lipid deposits occur in the glomerular mesangium, tubular epithelial cells, and interstitium. Electron microscopy may reveal diffuse thickening of the glomerular basement membrane and lipid droplets in the mesangium.
In GSD type II, ultrastructural analysis of a large number of different tissue samples reveals large amounts of normal glycogen. Under a light or electron microscope, large vacuoles can be observed in involved organs. The large vacuoles represent secondary lysosomes filled with glycogen.
Glycogen storage disease type II. Photomicrograph of the liver. Note the intensively stained vacuoles in the hepatocytes (periodic acid-Schiff, original magnification X 27).
Glycogen storage disease type II. Photomicrograph of the liver. Note the regular reticular net and hepatocytes vacuolization (Gordon-Sweet stain, original magnification X 25).
The histologic picture of the liver in patients with GSD type III is characterized by generalized distension of the hepatic cells by glycogen and fibrous tissue. The fibrotic process may be characterized by minimal periportal disease or micronodular cirrhosis. This is usually nonprogressive.
In GSD type V, histologic findings are nonspecific.
In GSD type VI, hepatocytes distended by the accumulated frayed or burst glycogen (ie, alpha particles, rosette form) may be observed in the liver and are less compact than in classic glycogenoses types I and III.
In GSD type VII, the abnormal polysaccharide accumulates, with fibrillar morphology, in the skeletal muscle.
More on Glycogen Storage Diseases Types I-VII |
| Overview: Glycogen Storage Diseases Types I-VII |
 Differential Diagnoses & Workup: Glycogen Storage Diseases Types I-VII |
| Treatment & Medication: Glycogen Storage Diseases Types I-VII |
| Follow-up: Glycogen Storage Diseases Types I-VII |
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Further Reading
Keywords
GSD, GSD type I, GSD Ia, GSD Ib, GSD lc, GSD Id, GSD type II, GSD type III, GSD type IV, GSD type V, GSD type VI, GSD type VII, von Gierke disease, von Gierke's disease, hepatorenal glycogenosis, acid maltase deficiency, Pompe disease, Pompe's disease, Forbes-Cori disease, Forbes-Cori's disease, limit dextrinosis, Andersen disease, Andersen's disease, amylopectinosis, McArdle disease, McArdle's disease, Hers disease, Hers' disease, Tarui disease, Tarui's disease, glucose-6-phosphatase deficiency, prototypic lysosomal disease, muscle phosphorylase deficiency, hepatic phosphorylase deficiency, phosphofructokinase deficiency, PFK deficiency
