Medical expert of the article
New publications
Diagnosis of glycogenoses
Last reviewed: 04.07.2025
All iLive content is medically reviewed or fact checked to ensure as much factual accuracy as possible.
We have strict sourcing guidelines and only link to reputable media sites, academic research institutions and, whenever possible, medically peer reviewed studies. Note that the numbers in parentheses ([1], [2], etc.) are clickable links to these studies.
If you feel that any of our content is inaccurate, out-of-date, or otherwise questionable, please select it and press Ctrl + Enter.
Glycogenosis type I
The main methods of confirming the diagnosis are biochemical (determination of the activity of the enzyme glucose-6-phosphatase in a liver biopsy) and molecular genetic (detection of mutations in the G6PC and G6PT genes). Glycogenosis type 1a is more common, so diagnostics begin with excluding this form of the disease, but if patients have neutropenia, the G6PT gene is examined first .
A complete blood count reveals thrombocytopenia, normocytic anemia, neutropenia (glycogenosis type 1b); a biochemical blood test reveals metabolic acidosis, decreased glucose levels, increased lactate (5-10 mM) and uric acid concentrations, increased lipid levels (mainly triglycerides, cholesterol, phospholipids, very low-density lipoproteins, low-density lipoproteins [LDL]), increased alkaline phosphatase activity, 8-glutamyl transferase. A complete urine test reveals proteinuria. Liver biopsy reveals decreased glucose-6-phosphatase activity, increased glycogen levels (3 times or more). Abdominal ultrasound reveals enlarged liver, kidneys, and spleen. Morphological examination of the liver reveals enlarged hepatocytes with deposits of glycogen and fats; morphological examination of the kidneys reveals focal segmental glomerulosclerosis and interstitial fibrosis.
Glycogen type III
The diagnosis is confirmed by determining the enzyme activity in leukocytes, erythrocytes or fibroblasts or by DNA analysis. Prenatal diagnostics may be performed in families with an adverse heredity.
Liver and muscle biopsy: decreased amylo-1,6-glucosidase activity, increased glycogen content (4 times or more).
Biochemical blood test: increased uric acid concentration, increased activity of creatine phosphokinase, alanine aminotransferase, aspartate aminotransferase, decreased glucose concentration, increased concentration of cholesterol, triglycerides.
Glycogenosis type IV
The main methods of confirming the diagnosis of glycogenosis IV are molecular genetic. Prenatal diagnostics can be performed in families with a burdened heredity.
In the liver biopsy, there is an accumulation of glycogen with an altered structure.
Biochemical blood test: increased activity of alkaline phosphatase, alanine aminotransferase, aspartate aminotransferase.
Glycogenosis type VI
The main methods of confirming the diagnosis are molecular genetic: detection of mutations in the PYGL gene. Prenatal diagnostics in families with an adverse heredity is possible, but ethically questionable due to the benign course of the disease.
Glycogenosis type IX
Accurate diagnosis of this disease is carried out by molecular genetic methods. Prenatal diagnosis is possible, but due to the benign course of the disease, it is ethically questionable.
Glycogenosis type 0
Patients with glycogenosis type 0 may be observed by endocrinologists for a long time, especially when they have glucosuria and ketonuria. The diagnosis is confirmed by liver biopsy - decreased glycogen content and deficiency of the enzyme glycogen synthase. DNA diagnostics are possible.
Glycogenosis type II
The main method of confirming the diagnosis is determining the activity of a-glycosidase in a culture of skin fibroblasts or muscle biopsy. DNA diagnostics are also possible.
Bone marrow biopsy shows "foam cells"; glycogen deposition in muscles and hepatocytes.
Prenatal diagnostics may be performed in families with a compromised heredity.
Glycogenosis type V
To confirm the diagnosis, ammonia, lactate and CPK are determined against the background of an ischemic test. When examining a muscle biopsy, subsarcolemmal glycogen accumulations are detected. The main method for confirming the diagnosis is the detection of mutations in the myophosphorylase gene. Prenatal diagnostics can be performed in families with an adverse heredity.
Glycogenosis type VII
Muscle biopsy reveals subsarcolemmal accumulations of structurally normal glycogen. The main method of confirming the diagnosis is DNA diagnostics.
Instrumental methods
Glycogenosis type III
Electromyography reveals signs of primary muscle damage. EchoCG reveals signs of cardiomyopathy.
Glycogenosis type IV
An ultrasound of the abdominal cavity reveals an increase in the size of the liver.
Differential diagnostics
Glycogenosis type I
Differential diagnostics are carried out with other liver forms of glycogenoses: types III, IV, VI and other hereditary metabolic diseases accompanied by hepatomegaly: deficiency of al-antitrypsin, defects in beta-oxidation of fatty acids; mutations of the mitochondrial genome (manifestation in the form of liver failure).
Glycogenosis type III
Differential diagnosis should be carried out with other glycogenoses, mainly types 1a, V, VI, as well as with hereditary metabolic diseases characterized by muscle hypotonia, lactic acidosis and hepatomegaly (fatty acid beta-oxidation defects, mitochondrial diseases).
Glycogenosis type IV
Differential diagnostics: hepatitis of various etiologies, glycogenoses types 1a, III, VI. Other hereditary metabolic diseases characterized by liver cirrhosis: a1-antitrypsin deficiency, mitochondrial genome mutations manifesting as liver failure, tyrosinemia, type 1a.
Glycogenosis type II
Differential diagnosis of Pompe disease should be carried out with muscular dystrophy, polymyositis, spinal muscle atrophy, scapuloperoneal syndromes and Danon disease.
[