Disorders of carbohydrate metabolism

Disorders of carbohydrate metabolism

1. PRESENTED BY
¨ManjotKaur
¨ManvirKaur
¨ManpreetKaur
¨Natique
¨MuskanAtwal
¨KrishmaRathor

3. It is an inborn error of metabolism when
body is unable to breakgalactose.
There is deficiency of enzymegalactose-3-
phosohateuridyltransferase.
Due to block of this enzyme galactose-3-
phosphate will accumulate in liver and
this will inhibitgalactokinaseas well as
glycogen phosphate.

8. DIAGNOSIS
Clinical manifestation
including congenital cataract
and presence ofgalactosein
urine as well as elevated
bloodgalactoselevels will
help in the diagnosis.
TREATMENT
If lactose is withdrawn from
the diet most of the
symptoms recede.

10. SYMPTOMS –headache, anxiety, confusion,
sweating, slurred speech, seizures and coma
and if not corrected death.
When the blood glucose concentration falls
toless than 45mg/dl, the symptoms of
hypoglycemia appear.

11. ¨Post-prandialhypoglycemia: This is called
reactive hypoglycemia and is observed in
subjects with an elevated insulin secretion
following a meal. This causes transient
hypoglycemia associated with mild symptoms.
¨Fasting hypoglycemia: Low blood glucose
concentration in fasting is not very common.
However fasting hypoglycemia is observed in
patients with pancreatic beta-cell tumourand
hepatocellulardamage.

13. ¨Due to alcohol intake: This is due to
accumulation of NADH which diverts the
pyruvatesand oxaloacetateto form, respectively,
lactate and malate.
¨Due to insulin overdose: Observed in patients
who are in intense insulin therapy regime.
¨In premature infants: Premature and
underweight infants have smaller store of liver
glycogen and are susceptible to hypoglycemia.

17. ¨Metabolic diseases
¨Characterized by hyperglycemia
¨Divided into 2 groups
¨IDDM
¨NIDDM

18. ¨Type 1 Diabetes –Juvenile onset diabetes
¨Occurs in childhood
¨10-20% on known diabetics
¨Characterized by almost total deficiency of
insulin-> due to destruction of Beta cells of
Pancreas
¨Symptoms appear after 80-90% of Beta cells have
been destroyed.
¨Pancreas fails to secrete insulin in response to
insulin ingestion
¨Therefore, patient require insulin therapy

19. ¨Type 2 diabetes-Adult onset diabetes
¨Most common, 80-90% of diabetic population
¨Occurs in adults
¨Commonly occurs in obese individuals
¨Decreasing insulin receptors on insulin
responsive cells.
¨Increased level of Tumor Necrosis Factor

20. ¨Diagnosis of diabetes made on basis of
individual’s response to oral glucose load, oral
glucose test. (OGTT)

21. ¨Take carbohydrate for at least 3 days prior to
test
¨All drugs influencing carbohydrate metabolism
should be discontinued
¨Avoid strenuous exercise on days previous to
test.
¨Be in overnight fasting state.

22. ¨Conducted preferably in morning (9-11 am)
¨Fasting blood sample is drawn and urine
collected
¨Subject given 75g glucose orally, dissolved in
300mL of water, to be drunk in 5 min.
¨Blood and urine samples collected at 30 minute
intervals for at least 2 hours.
¨Glucose estimation of all blood samples.
¨Urine sample qualitatively tested for glucose

23. ¨Fasting plasma glucose level = 75-110mg/dLin
normal person
¨Persons-> impaired glucose tolerance -> fasting
(110-126mg/dL) and 2 hour (140-200mg/dL)
plasma glucose levels are elevated

24. ¨Commonest cause of glucose excretion in urine.
¨It is first line screening test for diabetes
¨Normally, glucose does not appear in urine
until plasma glucose concentration exceeds
renal threshold (180mg/dL)

25. ¨Benign condition due to reduced renal
threshold for glucose
¨Unrelated to diabetes
¨Not accompanied by classical symptoms of
diabetes

26. ¨In some people, blood glucose level rises
rapidly after meals causing its excretion in
urine. This is Alimentary Glycosuria.
¨Observed in some normal people and patients
of hepatic disease and hyperthyroidism

27. ¨For GTT in children -> oral glucose is given on the
basis of weight
¨In pregnant women, 100g oral glucose is
recommended
¨For individual with suspected malabsorption
intravenous GTT is done.
¨GTT is unphysiological. To evaluate glucose
handling of body under physiological conditions,
fasting sample is drawn, subject is allowed to take
heavy breakfast, blood samples-> collected at 1 and 2
hours.

28. ¨Diabetes mellitus is associated with several
metabolic alterations. Most important among
them are
¨Hyperglycemia
¨Ketoacidosis
¨Hypertriglyceridemia

30. ¨Atherosclerosis
¨Retinopathy
¨Nephropathy
¨Neuropathy

31. ¨Dietary management : Low calorie , High
protein and fiberrich diet, reduce fat
intake,exercise
¨Hypoglycemicdrugs: Sulfonylureas
(Acetohexamide, tolbutamide)and Biguanides
¨Insulin: Short acting ( for 6 hours) and Long
acting ( for several hours )

32. ¨GLYCATED Hemoglobin:Most abundant is
HbA1c which is produced by condensation of
glucose with N terminal valineof each Beta chain
of HbA
DIAGNOSTIC IMPORTANCE
As the rate of synthesis of HbA1c is directly related
to the exposure of RBC to glucose , Thus serves
as indication of blood glucose concentration over
3 months period prior to measurement.

33. ¨Glycatedserum protein can also be measured .
As albumin is the most important plasma
protein , glycatedalbumin largely contributes
to plasma fructosaminemeasurements . It has
shorter half life than Hb. Thus , Glycated
albumin represents glucose status over 3 weeks
prior to its determination .

34. ¨As the name suggests, Lactose Intolerance
refers to a condition when the patient becomes
intolerant to lactose.
¨According to studies, 70% of adults are lactose
intolerant.
¨It can also be termed as hypolactasia

35. ¨Deficiency of lactase is the basic cause of lactose
intolerance.
¨Lactase is present in the Brush border region of small
intestine. Lactase hydrolyselactose to glucose and
galactose. Therefore, deficiency of this enzyme ,
either genetic or age related, causes accumulation of
lactose in body.
¨This lactose cannot be directly absorbed to the wall
of small intestine, so it passes intact into colon where
bacteria metabolize lactose and resulting
fermentation produces copious amount of H2, CO2,
CH3. This cause various abdominal symptoms.

36. ¨Principal symptom of lactose intolerance is
adverse reaction to products containing lactose
such as milk, etc.
¨Other symptoms include
-abdominal bloating
-Diarrhoea
-Nausea
-Vomiting

37. H2 Breath Test
¨It is the most accurate test
¨After an overnight fast, 25g of lactose is
swallowed
¨If lactose cannot be digested, enteric bacteria
metabolize it and produce H2 which can be
detected in patient’s breath by clinical gas
chromatography.
¨If H2 level in patient’s breath is high, they may
have lactose intolerance.

38. ¨Lactase pill prior to eating
¨To use lactase treated products
¨Restriction of lactose containing products in
diet
¨Curd and Yeast