Glycogenosis/ Classification and basic characteristics of glycogenoses
From WikiLectures
| 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 | |
