Defects of carbohydrates

Digestion & Absorption

Disaccharidase deficiency may exhibited

as intolerance to one or more of the

disaccharides(Lactose , maltose , sucrose).
Products
Glucose
Glucose and fructose
Glucose and galactose

Substrat
e
Maltose
Sucrose
Lactose

Enzyme
Maltase
Sucrase
Lactase

(1)Lactase deficiency=Lactose
intolerance
Definition:-(A)This is a deficiency of

lactase enzyme
which digest lactose into glucose and
galactose .
(B)It may be:-(i)Congenital:-which occurs
very soon
after birth (rare).
(ii) Acquired:-which occurs later on in life

 Effect:-The presence of lactose in intestine

causes:(A)Increased osmotic pressure:-So water will

be
drawn from the tissue(causing dehydration)
into the
large intestine (causing diarrhea).
(B)Increased fermentation of lactose by
bacteria:
Intestinal bacteria ferment lactose with

 (C)Treatment:-(i)Treatment of this disorder

is
simply by removing lactose (milk) from diet.
(ii)Nowadays there are tablets containing
lactase
enzyme.

(2)Sucrase deficiency
A rare condition, showing the signs and

symptoms of lactase deficiency.

It occurs early in childhood.

Tests for disaccharidase

and disaccharidase
deficiency
These tests are performed to determine

whether there is impairment of absorption

of ingested disaccharides , and to help
define whether any impairment is due to
intestinal disaccharidase deficiency.

(A)Disaccharides absorption
Principle
Defective digestion of disaccharide in the

brush-border of the jejunum can be

investigated by administering a standard
dose of the disaccharide and studying the
plasma glucose response.
Thus , lactase deficiency can be
demonstrated by the poor plasma glucose
rise following oral ingestion of 50gm of
lactose.

Deficiency of maltase and sucrase are

similarly studied using 50gm of maltose or

sucrose.

Interpretation
Normally the blood glucose levels rises by

about 49mg/dl (2.7mmol/l) but in

deficiency of the disaccharidase , increases
by less than 20mg/dl (1.1mmol/l).

(B)Disaccharide tolerance
test
Principle

Disaccharidase deficiency is diagnosed by

showing a fat disaccharide tolerance

curve and normal absorption of
monosaccharides.

Procedure

After an overnight fast , a fasting sample

of blood is collected for fasting blood

sugar.
Lactose or sucrose(50gm) is given orally
dissolved in 200ml of water.
Blood samples are collected half hourly for

In disaccharide deficiency the possibility

that generalized mucosal disease is

present , the test should be repeat using a
mixture containing 25g of each of the
monosaccharides that together makeup
the relevant disaccharide.

Interpretation

If the disaccharide tolerance curve is flat

a rise of blood sugar less than 20mg/dl ml

is obtained ; the test is performed again
next day , administering 25gm each of
glucose and galactose or glucose and
fructose respectively.

The maximum blood sugar rise of more

than 20mg/dl indicates adequate

disaccharidase activity , whereas a (falt)
disaccharide tolerance curve with normal
absorption of monosaccharides indicates
specific disacharidase deficiency.
If the blood sugar rise is less
than<20mg/dl with both the above tests ,
it suggests impaired absorption and no
conclusion can be made regarding
disaccharide activity.

(C)Disaccharide loading test

Principle

Administration of gradually increasing

doses of a disaccharide on different days

would result in diarrhoea in an individual.
Subjects tolerating less than <50gm of
lactose were considered to have lactose
deficiency.

(D)Tracer studies

Breath analysis after feeding

C-lactose ,
14
CO2 exhaled in breath is measured.
14

 In presence of lactose deficiency , little

14

CO2 is exhaled in the breath.

(E)Hydrogen breath
test(HBT)

Recently , a hydrogen breath test has

been used.
Carbohydrates not absorbed from the
small intestine is fermented by anaerobic
bacteria in the colon and forms hydrogen
which diffuses throughout the body.
It can be measured in the breath by an
electrochemical detector specific for

 A 50gm of disaccharide such as lactose is

administered to the patient and the

hydrogen in breath is monitored.
A marked increase in hydrogen excretion ,
greater than 0.5ml/minute , occurs if the
lactose reaches the colon , indicating small
intestine lesions.

Notes

Both false positive and false negative

results can occur.

False positive result is obtained in case of
bacterial overgrowth of small intestine or
due to rapid transit through small intestine.

 False negative results have been reported

in cases where colonic bacteria are not

capable of fermenting lactose and
producing hydrogen.
Such as event can occur after a course of
broad spectrum antibiotics.