GLYCOGEN STORAGE DISEASES

Information about GLYCOGEN STORAGE DISEASES

Published on February 27, 2014

Author: drmustansar

Source: authorstream.com

Content

GLYCOGEN STORAGE DISORDERS: GLYCOGEN STORAGE DISORDERS GLYCOGEN STORAGE DISORDERS: GLYCOGEN STORAGE DISORDERS These are a group of inherited disorders associated with glycogen metabolism, familial in incidence and characterized by deposition of normal or abnormal type and quantity of glycogen in the tissues There are 6 classical types of glycogen storage diseases :  There are 6 classical types of glycogen storage diseases Type1)Von gierke’s disease Type2) Pompe’s disease Type3)Limit dextrinosis ( Forbe’s disease) Type4) Amylopectinosis ( anderson’s disease) Type5) McArdle’s disease Type6) Her’s disease TYPE 1:Von gierke’s disease: TYPE 1:Von gierke’s disease ENZYME DEFICIENCY : glucose-6-phosphatase INHERITANCE : Autosomal recessive Liver cells and intestinal mucosal cells are fully loaded with glycogen and metabolically unavailable CLINICAL AND BIOCHEMICAL FEATURES OF VON GIERKE’S DISEASE : CLINICAL AND BIOCHEMICAL FEATURES OF VON GIERKE’S DISEASE Only little amount of glucose is available is derived from liver So the children with this disease may tend to develop hypogycemia Fat is used as a energy source so it may lead to LIPAEMIA,ACEDEMIA and KETOSIS Excess of Acetyl coA is diverted for chosterol synthesis this may lead to elevated level of cholestrol and results in XANTHOMAS Cont….: Cont…. Increased fatty acid synthesis can produce fatty infiltration of liver PERSISTENT HYPOGLYCAEMIA has 2 effects Hypoglycemia inhibits insulin which in turn inhibits protein synthesis which results in DWARFISM Hypoglycemia stimulates the secretion of CATECHOLAMINES which cause muscle glycogen to break down producing lactic acid and LACTIC ACIDOSIS Increased blood lactic acid competes with urate excretion by kidneys leading to increased blood uric acid levels Children with increased uric acid synthesis may develop the symptoms of GOUT PROGNOSIS : PROGNOSIS Children with this disease may die young and some of them survive till adolescence TYPE 2: POMPE’S DISEASE: TYPE 2: POMPE’S DISEASE ENZYME DEFICIENCY : ACID MALTASE enzyme which is present in lysosome and catalyses the breakdown of oligosaccharides INHERITANCE : AUTOSOMAL RECESSIVE Here the glycogen structure is normal and the organs which are involved is HEART,LIVER,SMOOTH MUSCLE,AND STRAITED MUSCLE All the tissue contain excess of glycogen CLINICAL FEATURES: CLINICAL FEATURES Enlargement of heart ( cardiomegaly ) Muscle weakness PROGNOSIS: PROGNOSIS Infants usually die due to cardiac failure and broncho pnuemonia Death usually occurs before 9 months TYPE 3 : LIMIT DEXTRINOSIS(FORBE’S DISEASE): TYPE 3 : LIMIT DEXTRINOSIS(FORBE’S DISEASE) ENZYME DEFICIENCY : DEBRANCHING ENZYME INHERITANCE : AUTOSOMAL RECESSIVE GLYCOGEN STRUCTURE : LIMIT DEXTRIN TYPE Organs involved are heart liver and muscle CLINICAL AND BIOCHEMICAL FEATURES: CLINICAL AND BIOCHEMICAL FEATURES HEPATOMEGALY MODERATE HYPOGLYCEMIA ACIDOSIS PROGRESSIVE MYOPATHY Enzyme deficiency can be demonstrated in leucocytes PROGNOSIS: PROGNOSIS Survives well to adultlife TYPE 4 : AMYLOPECTINOSIS(ANDERSON’S DISEASE): TYPE 4 : AMYLOPECTINOSIS(ANDERSON’S DISEASE) ENZYME DEFICIENCY : BRANCHING ENZYME INHERITANCE : NOT DEFINETELY KNOWN Glycogen deposited is abnormal type, few branch points and very long inner and outer unbranched chains LIVER is the mainly affected organ and other organs are HEART, KIDNEY, and MUSCLES Deposition is seen in RE SYSTEM CLINICAL AND BIOCHEMICAL FEATURES: CLINICAL AND BIOCHEMICAL FEATURES HEPATOMEGALY SPLENOMEGALY MODERATE HYPOGLYCEMIA NODULAR CIRRHOSIS OF LIVER HEPATIC FAILURE Enzyme deficiency can be demonsrated in leucocytes and liver PROGNOSIS: PROGNOSIS Usually fatal Longest survival is reported as 4 years TYPE 5 : McArdle’s disease: TYPE 5 : McArdle’s disease ENZYME DEFICIENCY : MUSCLE PHOSPHORYLASE INHERITANCE : AUTOSOMAL RECESSIVE Glycogen deposited in normalstructure and the organs involved are skeletal muscles CLINICAL FEATURES: CLINICAL FEATURES Muscle cramps on exercise Pain Stiffness and weakness of muscles EPINEPHRINE TEST: EPINEPHRINE TEST After administration of epinephrine rise in blood glucose occurs which shows that hepatic phosphorylase activity is normal TYPE 6 : Her’s disease: TYPE 6 : Her’s disease ENZYME DEFICIENCY : LIVER PHOSPHORYLASE Glycogen deposited is normal in structure Organs affected are mainly LIVER and LEUCOCYTES CLINICAL AND BIOCHEMICAL FEATURES: CLINICAL AND BIOCHEMICAL FEATURES HEPATOMEGALY MODERATE HYPOGLYCEMIA MILD ACIDOSIS

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