| Classification and basic characteristics various types of glycogenosis
|
| Type |
Name (synonyms) |
Enzyme deficit |
Affected organs |
Clinical signs
|
| 0 |
|
glycogenosyntase |
liver |
hypoglycemia, ketosis, early exitus (death)
|
| Ia |
Hepatorenal glycogenosis (von Gierke) |
glukose–6–phosphatese |
liver, kidneys, bowel |
hepatomegalia, enlargment of kidneys, hypoglycemia on empty stomach, acidosis, hyperlipidemia, hyperuricemia, dysfunction of thrombocytes, later also creation of hepatic adenoma and glomerulosclerosis
|
| Ib |
|
microsomal membrane glucose–6–phosphate translokase |
liver |
like type Ia; plus recurrentneutropenia, bacterial infection
|
| Ic |
|
microsomal P–transporter |
liver |
like type Ia
|
| II |
Generalized glycogenosis (Pompe disease, cardiac glycogenosis) |
lysosomal acid α–1,4–glucosidase |
all organs |
cardiomegalia, hepatomegalia (without hypoglycemia)
|
| III |
Limit dextrinosis (Cori disease, Forbes disease) |
debranching enzyme (amylo–1→6–glukosidase and oligo–1→4–glucantransferase) |
liver (muscles, heart), abnormal glycogen |
hepatomegalia, normal lipids and ECG, mild hypoglycemia, elevated AST a ALT (cirhosis, elevated CK)
|
| IV |
Amylopektinosis (Andersen disease, glykogenosis of defect branching) |
amylo–1→4–1→6–transglucosidase ("branching enzyme") |
abnormal glycogen (amylopectin in organs) |
hepatosplenomegalia, ascites, cirhosis, liver failure
|
| V |
McArdle disease |
muscle phosphorylase (myophosphorylase) |
skeletal muscles (only) |
weakness and muscle spasms during exercise, without hyperlactatemia, but elevated CK
|
| VI |
Deficit of liver phosphorylase (Hers syndrome) |
liver glycogen phosphorylase (50 % of normal) |
liver |
hepatomegalia, normal spleen, hypoglycemia, without hyperlipemia or ascites
|
| VII |
|
phosphofructokinase |
muscles, erytrocytes |
muscle weakness, spasms during exercise, mild hemolytic anemia
|
| previously VIII, IX, VIb |
|
phosphorylase b kinase |
liver, leukocytes, muscles (?) |
hepatomegalia, hypoglycemia (like type VI), X-linked inheritance
|
| X |
|
cAMP dependent proteinkinase |
liver, muscles |
hepatomegalia, not a disease of skeletal muscle or myocard
|
| Nonclassified |
|
activity of all enzymes is normal |
liver or liver and kidneys |
hepatomegalia with Fanconi syndrome; hypophosphatemic rickets (previously called vitamin D-resistant rickets); hereditary fructose intolerance
|
