06.disorder of carbohydrate metabolism

8/13/2019 06.Disorder of Carbohydrate Metabolism

1/47

DISORDER OF

CARBOHYDRATEMETABOLISM

Ph.D., MD, Assistant Professor

Hanna Saturska


2/47


3/47

molecular formulaC12H22O11

Major index which describes metabolism ofcarbohydrates, is a sugarlevel in blood.

In healthy people it is

4,4-6,6 mmol/l.

Sucrose is the organic compoundcommonlyknown as table sugar and sometimescalled saccharose.

The molecule is a disaccharidecomposed ofthe monosaccharidesglucoseand fructose
http://en.wikipedia.org/wiki/Molecular_formulahttp://en.wikipedia.org/wiki/Organic_compoundhttp://en.wikipedia.org/wiki/Disaccharidehttp://en.wikipedia.org/wiki/Monosaccharideshttp://en.wikipedia.org/wiki/Glucosehttp://en.wikipedia.org/wiki/Fructosehttp://en.wikipedia.org/wiki/Fructosehttp://en.wikipedia.org/wiki/Glucosehttp://en.wikipedia.org/wiki/Monosaccharideshttp://en.wikipedia.org/wiki/Disaccharidehttp://en.wikipedia.org/wiki/Organic_compoundhttp://en.wikipedia.org/wiki/Molecular_formula


4/47

glucoselevel in blood

3,3-5,5 mmol/l.

GlucoseC6H12O6, also knownas D-glucose, dextrose, or grapesugar) is asimple monosaccharide

Open-chain form

Cyclic forms
http://en.wikipedia.org/wiki/Carbonhttp://en.wikipedia.org/wiki/Hydrogenhttp://en.wikipedia.org/wiki/Oxygenhttp://en.wikipedia.org/wiki/Monosaccharidehttp://en.wikipedia.org/wiki/Monosaccharidehttp://en.wikipedia.org/wiki/Oxygenhttp://en.wikipedia.org/wiki/Hydrogenhttp://en.wikipedia.org/wiki/Carbon


5/47

This value is summary result of complicated

interaction of many exogenous and

endogenous influences.

1. The first it reflects a balance between

amount of glucosewhich entrance in blood

amount of glucosewhich is utilized by cells


6/47

2. The second, glucose level in

blood reflects an effect ofsimultaneous regulatory influence on

carbohydrates metabolism of the

nervous system and endocrine

glands:

pituitary gland

(somatotropicthyreotropic

adrenocorticotropic

hormones)

adrenal cortex

(adrenalin,noradrenalin)

layer

pancreas

(insulin,

glucagone,

somatostatin)

thyroid(thyroxin,

triiodthyronine)


7/47


8/47

Among enumerated hormones only

insulin lowers glucose concentration in

blood the rest of hormones increase it . The glucose concentration in blood

describes carbohydrates metabolism

both of healthy man and sick. Illnesses base of which is disorder of

carbohydrates metabolism can flow with

rise of glucose concentration in bloodand with lowering of it.


9/47

Rise of glucose concentration is named

hyperglicemialowering hypoglicemia.

For example,hyperglicemia is very typical

for diabetes mellitus, hypoglycemia for

glycogenosis.

hyperglicemia hypoglicemia

diabetes mellitus glycogenosis


10/47

Diabetes mellitus

Diabetes mellitus, often simply referred to

as diabetesis a group of metabolic

diseases in which a person has high

blood sugar,

either because the body does not produce

enough insulin,

or because cells do not respond to the

insulin that is produced.
http://en.wikipedia.org/wiki/Blood_sugarhttp://en.wikipedia.org/wiki/Insulinhttp://en.wikipedia.org/wiki/Insulinhttp://en.wikipedia.org/wiki/Blood_sugar


11/47

This high blood sugar produces the

classical symptoms:

polyuria(frequent urination),

polydipsia(increased thirst)

polyphagia(increased hunger).
http://en.wikipedia.org/wiki/Polyuriahttp://en.wikipedia.org/wiki/Polydipsiahttp://en.wikipedia.org/wiki/Polyphagiahttp://en.wikipedia.org/wiki/Polyphagiahttp://en.wikipedia.org/wiki/Polydipsiahttp://en.wikipedia.org/wiki/Polyuria


12/47


13/47

Type 2 diabetes: results from

insulin resistance, a condition inwhich cells fail to use insulin

properly, sometimes combinedwith an absolute insulin

deficiency. (Formerly referred to

as non- insul in-dependentdiabetes mellitus, NIDDMfor short,and adult-onsetdiabetes.)
http://en.wikipedia.org/wiki/Diabetes_mellitus_type_2http://en.wikipedia.org/wiki/Insulin_resistancehttp://en.wikipedia.org/wiki/Insulin_resistancehttp://en.wikipedia.org/wiki/Diabetes_mellitus_type_2http://en.wikipedia.org/wiki/Diabetes_mellitus_type_2http://en.wikipedia.org/wiki/Diabetes_mellitus_type_2


14/47

Gestational diabetes: is when

pregnant women, who have never

had diabetes before, have a high

blood glucose level duringpregnancy. It may precede

development

of type 2 DM.
http://en.wikipedia.org/wiki/Gestational_diabeteshttp://en.wikipedia.org/wiki/Gestational_diabetes


15/47

Other forms of diabetes mellitus

includecongenital diabetes, which is

due to genetic defects of insulin

secretion,

cystic fibrosis-related diabetes,

steroid diabetes induced by highdoses of glucocorticoids,

several forms of monogenic
http://en.wikipedia.org/wiki/MODYhttp://en.wikipedia.org/wiki/MODYhttp://en.wikipedia.org/wiki/MODY


16/47

As of 2000 at least 171

millionpeople worldwidesuffer from diabetes, or

2.8%of the population.Type 2 diabetes is by far

the most common, affecting90 to 95%of the diabetes

population


17/47


18/47

Type 1

Type 1 diabetes mellitus is

characterized by loss of the insulin-

producing beta cellsof the islets ofLangerhansin the pancreas leading to

insulin deficiency.
http://en.wikipedia.org/wiki/Beta_cellhttp://en.wikipedia.org/wiki/Islets_of_Langerhanshttp://en.wikipedia.org/wiki/Islets_of_Langerhanshttp://en.wikipedia.org/wiki/Islets_of_Langerhanshttp://en.wikipedia.org/wiki/Islets_of_Langerhanshttp://en.wikipedia.org/wiki/Beta_cell


19/47

In 1869, whilelooking down the

microscope, theBerlin physicianPaul Langerhansdiscovered small

islets of cellsscatteredthroughout thepancreas. These

cells areresponsible forthe production ofinsulin.


20/47

Digestive enzymes

include trypsin,chymotrypsin,

pancreatic lipase,

and pancreatic

amylase, and areproduced and

secreted by acinar

cells of the

exocrine pancreas.

insulin

glukagon

Somato-

statin
http://en.wikipedia.org/wiki/Somatostatinhttp://en.wikipedia.org/wiki/Somatostatinhttp://en.wikipedia.org/wiki/Somatostatinhttp://en.wikipedia.org/wiki/Somatostatinhttp://en.wikipedia.org/wiki/Somatostatinhttp://en.wikipedia.org/wiki/Somatostatinhttp://en.wikipedia.org/wiki/Somatostatinhttp://en.wikipedia.org/wiki/Somatostatin


21/47


22/47


23/47

Type 2 Type 2 diabetes mellitus is characterized

by insulin resistancewhich may becombined with relatively reduced insulinsecretion. The defective responsivenessof body tissues to insulin is believed toinvolve the insulin receptor. However,the specific defects are not known.

Diabetes mellitus due to a known defectare classified separately. Type 2diabetes is the most common type.

In the early stage of type 2 diabetes, thepredominant abnormality is reducedinsulin sensitivity. At this stagehyperglycemia can be reversed by avariety of measures and medicationsthat improve insulin sensitivity or reduceglucose production by the liver.
http://en.wikipedia.org/wiki/Insulin_resistancehttp://en.wikipedia.org/wiki/Insulin_receptorhttp://en.wikipedia.org/wiki/Anti-diabetic_drughttp://en.wikipedia.org/wiki/Liverhttp://en.wikipedia.org/wiki/Liverhttp://en.wikipedia.org/wiki/Anti-diabetic_drughttp://en.wikipedia.org/wiki/Insulin_receptorhttp://en.wikipedia.org/wiki/Insulin_resistance


24/47


25/47

Gestational diabetes

Gestational diabetes mellitus (GDM)resembles type 2 diabetes in severalrespects, involving a combination ofrelatively inadequate insulinsecretion and responsiveness. It

occurs in about 2%5% of allpregnanciesand may improve ordisappear after delivery. Gestationaldiabetes is fully treatable butrequires careful medical supervisionthroughout the pregnancy. About20%50% of affected womendevelop type 2 diabetes later in life.
http://en.wikipedia.org/wiki/Pregnancyhttp://en.wikipedia.org/wiki/Pregnancy


26/47

When a woman has high blood sugar

only while she is pregnant, it is a special

type called Gestational Diabetes. Usuallythe blood sugar is kept in the normal

range by insulin made by the body. Most

of the time, pregnant women make more

insulin to lower the blood sugar.However, some womencannot do this, and theseare the women who

develop gestational

diabetes. This usuallyoccurs in the second halfof pregnancy.


27/47

Symptoms:

Increased thirst

Increased urination

Weight loss in spite of increased appetite

Fatigue

Nausea and vomiting

Frequent infections including those of thebladder, vagina, and skin

Blurred vision

Note: Usually there are no symptoms.


28/47


29/47


30/47

People (usually with type 1 diabetes) may

also present with diabetic ketoacidosis, a

state of metabolic dysregulationcharacterized by the smell of acetone; a

rapid, deep breathing known as Kussmaul

breathing; nausea; vomiting andabdominal pain; and an altered states of

consciousness.
http://en.wikipedia.org/wiki/Diabetic_ketoacidosishttp://en.wikipedia.org/wiki/Acetonehttp://en.wikipedia.org/wiki/Kussmaul_breathinghttp://en.wikipedia.org/wiki/Kussmaul_breathinghttp://en.wikipedia.org/wiki/Abdominal_painhttp://en.wikipedia.org/wiki/Abdominal_painhttp://en.wikipedia.org/wiki/Kussmaul_breathinghttp://en.wikipedia.org/wiki/Kussmaul_breathinghttp://en.wikipedia.org/wiki/Acetonehttp://en.wikipedia.org/wiki/Diabetic_ketoacidosis


31/47

A rarer but equally severe possibility is

hyperosmolar nonketotic state, which is more

common in type 2 diabetes and is mainly theresult of dehydration. Often, the patient has

been drinking extreme amounts of sugar-

containing drinks, leading to a vicious circlein

regard to the water loss. A number of skin rashes can occur in diabetes

that are collectively known as diabetic

dermadromes.
http://en.wikipedia.org/wiki/Nonketotic_hyperosmolar_comahttp://en.wikipedia.org/wiki/Positive_feedbackhttp://en.wikipedia.org/wiki/Diabetic_dermadromeshttp://en.wikipedia.org/wiki/Diabetic_dermadromeshttp://en.wikipedia.org/wiki/Diabetic_dermadromeshttp://en.wikipedia.org/wiki/Diabetic_dermadromeshttp://en.wikipedia.org/wiki/Positive_feedbackhttp://en.wikipedia.org/wiki/Nonketotic_hyperosmolar_coma


32/47

Causes

Type 1 diabetes is also partly inherited and thentriggered by certain infections, with someevidence pointing at Coxsackie B4 virus. There

is a genetic element in individual susceptibility tosome of these triggers which has been traced toparticular HLAgenotypes(i.e., the genetic "self"identifiers relied upon by the immune system).

However, even in those who have inherited thesusceptibility, type 1 diabetes mellitus seems torequire an environmental trigger.
http://en.wikipedia.org/wiki/Coxsackie_B4_virushttp://en.wikipedia.org/wiki/Human_leukocyte_antigenhttp://en.wikipedia.org/wiki/Genotypehttp://en.wikipedia.org/wiki/Genotypehttp://en.wikipedia.org/wiki/Human_leukocyte_antigenhttp://en.wikipedia.org/wiki/Coxsackie_B4_virus


33/47

Causes

The cause of diabetes depends on the

type. Type 2 diabetes is due primarily to

lifestyle factors and genetics.


34/47


35/47

Complications of diabetes
http://en.wikipedia.org/wiki/Diabetes_mellitushttp://en.wikipedia.org/wiki/Diabetes_mellitus


36/47


mellitus
http://en.wikipedia.org/wiki/Diabetes_mellitushttp://en.wikipedia.org/wiki/Diabetes_mellitushttp://en.wikipedia.org/wiki/Diabetes_mellitushttp://en.wikipedia.org/wiki/Diabetes_mellitus


37/47


38/47

Acute


mellitus Diabetic ketoacidosis

Hyperglycemia hyperosmolar state

Hypoglycemia

Diabetic coma

Respiratory infections

Chronic
http://en.wikipedia.org/wiki/Diabetes_mellitushttp://en.wikipedia.org/wiki/Diabetes_mellitushttp://en.wikipedia.org/wiki/Diabetes_mellitushttp://en.wikipedia.org/wiki/Diabetes_mellitus


39/47

ChronicComplications of diabetes

mellitus AngiopathyChronic

elevation of bloodglucose level leads

to damage of bloodvessels

The endothelialcellslining theblood vessels takein more glucosethan normal, sincethey do not dependon insulin.

Fundus photo showing scatter laser

surgery for diabetic retinopathy
http://en.wikipedia.org/wiki/Diabetes_mellitushttp://en.wikipedia.org/wiki/Diabetes_mellitushttp://en.wikipedia.org/wiki/Angiopathyhttp://en.wikipedia.org/wiki/Blood_vesselhttp://en.wikipedia.org/wiki/Blood_vesselhttp://en.wikipedia.org/wiki/Endothelial_cellhttp://en.wikipedia.org/wiki/Endothelial_cellhttp://en.wikipedia.org/wiki/Endothelial_cellhttp://en.wikipedia.org/wiki/Endothelial_cellhttp://en.wikipedia.org/wiki/Blood_vesselhttp://en.wikipedia.org/wiki/Blood_vesselhttp://en.wikipedia.org/wiki/Angiopathyhttp://en.wikipedia.org/wiki/Diabetes_mellitushttp://en.wikipedia.org/wiki/Diabetes_mellitus


40/47


41/47


42/47

Galactosemia

This is hereditary illness. In its base lies an

blockade of galactose metabolism. In organismintermediate metabolits accumulate. There are twothe main forms of galactosemia on base oftransferase insufficiency and on base of

galactokinase insufficiency.

transferase insufficiency

galactokinase insufficiency


43/47

Glycogenoses

Simple carbohydrates deposit inorganism as polysaccharides. In muscles

and liver accumulates glycogen. It consistof 4 % of liver weight and 2 % of musclesweight. Muscles glycogen is used as ofready fuel source for immediateguaranteeing by energy. Liver withoutinterruption provides cerebrum anderythrocytes with glucose .

Synthesis and splitting of glycogen areexactly adjusted and coordinatedprocesses. Attached to immediate need inglucose cells of pancreas secretglucagone. It activates adenylatcyclase ofhepatic cells. Adenilatcyclase stimulates

derivation of cAMP. Under action of cAMPtakes place activation of proteinkinase andthis enzyme raises activityglycogenphosphorilase and oppressesactivity of glucogensynthase.


44/47

Glycogenosis type I Girkes

disease. Girkes disease cause

deficit of glucose-6-phosphatase.

This enzyme provides 90 % of

glucose which disengages in liverfrom glycogen.

It play central role in normal glucose

homeostasis. Glucose which

disengages attached to disintegration

of glycogen or is derivated in process

of gluconeogenesis obligatory goes

over stage of glucose-6-phosphate.

Enzyme glucose-6-phosphatase

tears away a phosphate group from

glucose. There free glucose is

formed it goes out in blood.

Attached to Girkesdisease stage of

tearing phosphate group is blocked.There are no free glucose

hypoglycemia occur.

Hypoglycemia arises. Attached to

Girkesdisease glycogen is deponed

in liver and kidneys.

Girkes disease


45/47

Type glycogenos is Pompesd isease.Illness is related to deficit of lysosomalenzyme sour maltase, or -1,4-glucosidase. This enzyme slits glycogene toglucose in digestive vacuoles. Attached to

its deficit glycogen accumulates at first inlysosomes and then in cytosole ofhepatocytes and myocytes.

Type glycogenos is Corisd isease,Forbs disease. This illness is namedlimitdecstrinosis. In itsbase lies a deficit ofamylo-1,6-glucosidase. Degradation of

glycogen pauses in sites of branching.Glycogen accumulates in liver and muscles.Cure is diet with big proteins maintenance.

Type V glycogenos is Andersonsdisease. It is called by deficit of amilo-1,4,1,6-transglucosidase (branchingenzyme). As result of this There is derivated

anomalous glycogen with very longbranches and rare points of branching. It isnot exposed to degradation andaccumulates in liver, heart, kidneys, spleen,lymphatic nods, skeletal muscles.

Glycogen storage disease II (Micro)

The myofibers are engorged with glycogen. On cross sections the myofibrils are pushed to the periphery.

Despite the thick walls, this is not hypertrophy. These patients present with congestive failure.

T V l i McArdels


46/47

Type V glyco genosis McArdelsdisease. Its cause is deficit ofphosphorilase of myocytes. Typicalpain displays in muscles after

physical loading. Glycogene doesnot slit only in muscles. Here itaccumulates. In liver mobilization ofglycogen comes normal.

Type V glycogenosis Hersdisease. Illness arises as result ofinsufficiency of hepaticphosphorilase complex. Glycogenaccumulates in liver. Typical sign is

hepatomegalia. Type V glycogenosis . Illness

essence is in oppression of musclephosphofrutkinase. Symptoms aresimilar to McArdles disease.


47/47

06.disorder of carbohydrate metabolism

Documents