1 / 20

Glycogen storage disease

Glycogen storage diseases are grouped of inherited disorders characterized by deposition of an abnormal type or quantity of glycogen in the tissues. They are mainly due to deficiency of one of enzyme of glycogenolysis or glycogenesis . Glycogen storage disease. Von Gierke’s disease

tiana
Download Presentation

Glycogen storage disease

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript


  1. Glycogen storage diseases are grouped of inherited disorders characterized by deposition of an abnormal type or quantity of glycogen in the tissues. • They are mainly due to deficiency of one of enzyme of glycogenolysis or glycogenesis. Glycogen storage disease

  2. Von Gierke’s disease • It is due to deficiency of glucose -6-phosphatase in liver and kidnney. • It is commonest type • Accumulation of large amount of glycogen glycogen in liver – disturbance in liver function. • Enlargement of liver and kidney. • Fasting hypoglycemia associated with ketosis and hyperlipaemia. Type I

  3. Pompe’s disease • Deficiency of acid maltase. • Glycogen accumulation in lysosome. Type II

  4. limit dextrinosis disease(cori disease). • Due to deficiency of debranching enzyme of in liver ,muscles and heart. • Glycogen has many short branches. Type III

  5. Amylopectinosis(anderson’s disease) • Due to absence of branching enzyme .glycogen formed have no or few branches. Type IV

  6. Mc –Ardle’s disease. • Due to muscle phosphorylase . Glycogen is accumulated in muscle and breaking does not occur during exercise. • Muscle cramps are present. Type V

  7. Her’s disease • Due to deficiency of liver phosphorylase. Type VI

  8. Due to deficiency of phosphofructokinase enzyme in the muscle. Type VII

  9. Hereditary deficiency • Aldolase –B enzyme  accumulation of fructose 1- P • Frcutose 1,6 –biphosphatase  accumulation of fructose 1,6 biphopate (hereditary fructose intolerance). • Accumulation of F -1-P and F -1 ,6BPinhibiton of glycogen phosphorylase  inhibition of glycogenolysis liver glycogen + hypoglycemia. Fructosaemia

  10. Appearance of fructose in urine . It is a result of fructosaemia. • Conversion of glucose to fructose: • Free fructose found in semen and amniotic fluid • Deficiency of fructose in seminal fluid correlates with male infertility. • Derived from conversion of glucose to fructose. • Formed in the seminal fluid vesicle as follows: Fructosuria

  11. Glucose ALDOSE REDUCTASE sorbitolsorbitoldehydrogenasefructose NADPH + H+ NADP+ NADH+ NADH + H+ As follows

  12. Increase of galactose concentration in blood. • Causes: It is due to deficiency of one of the following enzyme : Galacotokinase , galactose 1 uridyltransferase and UDP-galactoseepimerase. • Pathological effects: • Cataract : ( opacity of the eyes lens) • Galactosereduced by aldosereductasegalactitol cataract • l galactosaemia

  13. Liver failure • Mental retardation • Galactosuria: increase excretion of galactose in urine. Cont.

  14. Rise in blood glucose level above normal average concentration.equal or more than 140mg/dl. • Occurs in • Diabetes mellitus • Patient receiving intravenous fluid containing glucose. • Temporarily in severe stress. • After cerebrovascular accidents. Hyperglycemia

  15. Decrease in blood glucose level below normal average concentration : less than 40mg/dl. • Symptoms: • Release of acute adrenaline which leads to 1. Sweating ,weakness, anxiety, nervousness and hunger. hypoglycemia

  16. Due to acidosis(ketosis) Ketosis coma

  17. Insulin –dependent (or type I) diabetes mellitus (DDM) • Absolute deficiency of insulin caused by destruction of Beta cells of the pancreas . • stimulus form environment( viral infection) • Autoimmune condition called insulinitis • “Honey moon” transient condition. • ketosis DDM

  18. Most common • Non-insulin dependent diabetes mellitus(NIDDM). • Develops without any symptoms. • Dysfunction of Beta cells • Resistance to insulin action at cellular level. • NIDDM is based on completely genetic background. • No virus or autoimmune antibodies • Over 80% of NIDDM are obese. Type II

  19. Caused by excessive absorption of iron and its precipitation in tissues as: • 1. skin: causing discolouration. • 2. causing diabetes mellitus • Liver : causing hepatic cirrhosis. Bronze diabetes

  20. Due to hyperlactatemia .This type may occur in some patients who receive oral hypoglycemia drug called : phenformin. Lactic acidosis

More Related