Diseases of Carbohydrate Metabolism                                                          1/2

          Disease       ...
Diseases of Carbohydrate Metabolism (summary)                                                         2/2

Upcoming SlideShare
Loading in …5

Diseases of carbohydrate_metabolism


Published on

Published in: Health & Medicine
1 Like
  • Be the first to comment

No Downloads
Total views
On SlideShare
From Embeds
Number of Embeds
Embeds 0
No embeds

No notes for slide

Diseases of carbohydrate_metabolism

  1. 1. Diseases of Carbohydrate Metabolism 1/2 Disease Cause (Deficiency of) Symptoms and manifestations Treatment Lactose intolerance The gases produced from Starts with early lactation. The Lactose free milk. Then after (Inherited lactase fermentation of unabsorbed sugars infant complains of abdominal beginning of eating, lactose free deficiency) by intestinal bacteria. distention and colic. diet. Starts later with addition of cane The gases produced from Lactose free milk. Then after sugar to the diet. The infant Inherited sucrase deficiency fermentation of unabsorbed sugars beginning of eating, sucrose free complains of abdominal distention by intestinal bacteria. diet. and colic. Accumulation of pyruvate that is Lactic acidosis Pyruvate dehydrogenase (PDH) converted to lactate  lactic acidosis. Deficiency of glycolytic enzyme: - 95%: Pyruvate kinase. Hemolytic anemia - 4%: Phospho-hexose isomerase. N.B. RBCs dependent on glycolysis only for production of energy. - Avoid: fava beans and certain Decreased concentration of NADPH drugs that produce H2O2, like: Glucose 6-phosphate  decreased capacity of RBC’s to premaquine, aspirin, and Favism dehydrogenase (G6PD). protect itself from oxidative sulfonamides. damage. - Blood transfusion during the attack of hemolysis. Genetic deficiency of L-xylulose Accumulation of L-xylulose and its Essential pentosuria reductase excretion in urine. - Accumulation of G6P & glycogen in Type I: Von Genetic deficiency of Glucose 6 liver & kidneys  fasting Gierke’s phosphatase (G6Pase) hypoglycemia, hyper-lipidemia, ketosis, hyperuricemia or Gout. Glycogen - Accumulation of glycogen in storage muscles  painful cramps. diseases Type V: - Accumulation of glycogen & (Glycogenosis) Genetic deficiency of Muscle McArdle’s decreased ATP  increase serum phosphorylase Syndrome levels of muscle enzymes (creatine phosphate, lactate dehydrogenase). - Accumulation of F1,6 BP. - Depletion of liver phosphate & Fructose 1,6 inhibition of glycogen Fructose 1,6 Bisphosphatase Bisphosphatase (F1,6BP) phosphorylase. (F1,6BPase) Deficiency - Inhibition of glycogenolysis & impaired gluconeogenesis.  Fasting hypoglycemia (in infants). Essential Fructosemia & fructosuria after Fructokinase enzyme fructosuria ingestion of fructose or sucrose. Hereditary Accumulation of Fructose 1 defects in Hereditary phosphate (F1P) + depletion of liver fructose fructose Aldolase B (liver enzyme) phosphate  inhibition of glycogen metabolism intolerance phosphorylase  hypoglycemia after fructose or sucrose feeding. - In eyes: blood galactose reduced by aldose reductase to form galactitol (dulcitol) & its - Galactose free diet. accumulation lead to cataract. - Children can form UDP-Gal from - Accumulation of galactose 1 UDP-Glc by the epimerase, which Galactokinase. phosphate & depletion of liver explain their normal growth. Galactosemia Uridyl transferase (most common). phosphate  inhibition of - Later on: children can utilize 4 epimerase. glycogen phosphorylase  galactose normally duo to hypoglycemia after galactose or development of UDP-Gal lactose feeding. phosphorylase which can replace - Later on: Liver failure, mental the Gal-1-P Uridyl-transferase. deterioration & neuronal dysfunction. Accumulation of GAGs in tissues  Genetic deficiency of one of the This disease is usually progressive Cloudy corneas, mental retardation, Muco-poly-saccharidosis lysosomal enzymes that degrade and leads to death in early stiff joints & hepato-spleeno- GAGs childhood. megaly. By: Omar Aldurini
  2. 2. Diseases of Carbohydrate Metabolism (summary) 2/2 Symptoms & Disease Definition Types Causes manifestations Hyperactivity, hyperplasia or tumors of pancreatic B-cells (insulinoma). Hyper-insulism Over dosage of insulin, even in diabetic patients, may produce hypoglycemia. Hypo-function of pituitary, adrenals and thyroid glands. Hypo-secretion of anti- In all these conditions, insulin acts insulin hormones unopposed and causes lowering of blood Fasting glucose. hypoglycemia Decreased glycogen storage and impaired - Rapid pulse. Liver diseases gluconeogenesis. - Sweating. Chronic renal disease Impaired gluconeogenesis. - Headache. - Von Gierke’s: duo to deficiency of G6Pase. - Drowsiness. - F1, 6 BPase deficiency. It is drop of blood - Tremors. Hereditary metabolic - Genetic defects that produce impairment glucose level - If not treated disorders of fatty acid oxidation. It is explained that Hypoglycemia below the normal the condition FA oxidation spares glucose oxidation and fasting levels may lead to stimulate gluconeogenesis during fasting. (>45mg/dl). coma and Gastrectomy  Rapid absorption of glucose even death Alimentary post-  Rapid rise in blood levels  excessive duo to prandial hypoglycemia secretion of insulin  hypoglycemia. affection of Normally: Rise in blood glucose levels  brain tissue. Secretion of insulin  Temporary (short time) hypoglycemia to fasting level or lower. Postprandial Reactive hypoglycemia This is known as Reactive Hypoglycemia. hypoglycemia If prolonged it indicates either exaggerated insulin response or decreased activity of anti-insulin hormones. - Hereditary fructose intolerance: deficiency Hereditary metabolic of aldolase B. disorder - Galactosemia: deficiency of Gal-1-P Uridyl- transferase. Hyperglycemic Diabetes mellitus Diabetes mellitus. glucosuria Occurs when As in emotional, stress glucosuria or It is the presence blood glucose Epinephrine glucosuria pheochromocytoma (epinephrine secreting of glucose on level exceeds the tumor). urine in amounts renal threshold Increase glucose absorption duo to more than 30 The presence (180 mg/dl) Alimentary glucosuria Gastrectomy. mg/dl which are of glucose on Glucosuria detectable by urine in Congenital glucosuria Congenital defects on renal tubular ordinary test amounts more (benign glucosuria or Normoglycemic or mechanism for reabsorption of glucose. methods: than 30 mg/dl diabetes innocens) renal glucosuria Fehling’s, Acquired renal In these cases As in case of nephritis. Benedict’s & diseases the blood Urinary strips. It appears during pregnancy and disappears glucose level is after labor. within the Pregnancy glucosuria N.B. Phlorhizin produces this type of normal range glucosuria duo to inhibition of the sodium dependent transporter of renal tubules. By: Omar Aldurini