These are a group of inherited disorders associated with glycogen metabolism, familiar in incidence and characterized by deposition of normal or abnormal type and quantity of glycogen in the tissues

2. GLYCOGEN STORAGE
DISORDERS
THESE ARE A GROUP OF INHERITED DISORDERS
ASSOCIATED WITH GLYCOGEN METABOLISM,
FAMILIAR IN INCIDENCE AND CHARACTERIZED BY
DEPOSITION OF NORMAL OR ABNORMAL TYPE
AND QUANTITY OF GLYCOGEN IN THE TISSUES

3. 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

4. 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

5. 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
CHOLESTEROL SYNTHESIS THIS MAY LEAD TO
ELEVATED LEVEL OF CHOLESTEROL AND
RESULTS IN XANTHOMAS

6. PROGNOSIS
•CHILDREN WITH THIS DISEASE
MAY DIE YOUNG AND SOME OF
THEM SURVIVE TILL
ADOLESCENCE

7. 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

8. CLINICAL FEATURES
• ENLARGEMENT OF HEART (CARDIOMEGALY)
• MUSCLE WEAKNESS

9. PROGNOSIS
• INFANTS USUALLY DIE DUE TO CARDIAC
FAILURE AND BRONCHO PNEUMONIA
• DEATH USUALLY OCCURS BEFORE 9
MONTHS

10. 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

11. CLINICAL AND BIOCHEMICAL
FEATURES
• HEPATOMEGALY
• MODERATE HYPOGLYCEMIA
• ACIDOSIS
• PROGRESSIVE MYOPATHY
• Enzyme deficiency can be demonstrated
in leucocytes

12. PROGNOSIS
• SURVIVES WELL TO ADULT LIFE

13. 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
UN-BRANCHED CHAINS
• LIVER IS THE MAINLY AFFECTED ORGAN AND OTHER
ORGANS ARE HEART, KIDNEY, AND MUSCLES
• DEPOSITION IS SEEN IN RE SYSTEM

14. CLINICAL AND BIOCHEMICAL
FEATURES
• HEPATOMEGALY
• SPLENOMEGALY
• MODERATE HYPOGLYCEMIA
• NODULAR CIRRHOSIS OF LIVER
• HEPATIC FAILURE
• ENZYME DEFICIENCY CAN BE DEMONSTRATED IN LEUCOCYTES
AND LIVER

15. PROGNOSIS
• USUALLY FATAL
• LONGEST SURVIVAL IS REPORTED AS 4 YEARS

16. TYPE 5 : MCARDLE’S
DISEASE
• ENZYME DEFICIENCY : MUSCLE PHOSPHORYLASE
• INHERITANCE : AUTOSOMAL RECESSIVE
• GLYCOGEN DEPOSITED IN NORMAL STRUCTURE AND THE
ORGANS INVOLVED ARE SKELETAL MUSCLES

17. CLINICAL FEATURES
• MUSCLE CRAMPS ON EXERCISE
• PAIN
• STIFFNESS AND WEAKNESS OF
MUSCLES

18. EPINEPHRINE TEST
• AFTER ADMINISTRATION OF EPINEPHRINE RISE IN
BLOOD GLUCOSE OCCURS WHICH SHOWS THAT
HEPATIC PHOSPHORYLASE ACTIVITY IS NORMAL

19. TYPE 6 : HER’S DISEASE
• ENZYME DEFICIENCY : LIVER
PHOSPHORYLASE
• GLYCOGEN DEPOSITED IS NORMAL IN
STRUCTURE
• ORGANS AFFECTED ARE MAINLY LIVER
AND LEUCOCYTES

20. CLINICAL AND BIOCHEMICAL FEATURES
• HEPATOMEGALY
• MODERATE HYPOGLYCEMIA
• MILD ACIDOSIS