PCH 201 : Clinical Biochemistry

Basic Biochemistry

Lecture Notes 2 : Lactose tolerance, galactosemia

Mr Willmore Chingwena
Room 146, Dept Biotechnology and Biochemistry
University of Zimbabwe
By the end of these Lecture, you will be able to know the
following :
 Identify pathophysiological basis of carbohydrate disorders
Explain the clinical basis of diseases
Summary in learning disorders

Definition
Variable clinical symptoms/signs
Mechanisms: e.g varying toxicity of metabolites
Diagnosis-special biochemical tests
Therapy generallly possible and efficient
Management
Definition
The inability to digest and absorb lactose (the sugar in milk) that
results in gastrointestinal symptoms when milk or products
containing milk are drunk or eaten.
Symptoms
•Abdominal bloating
•Abdominal cramps
•Gas
•Malnutrition
•Nausea
•Slow growth
•Weight loss
•Symptoms often occur after you eat or drink milk products, and
are often relieved by not eating or drinking milk products. Large
doses of milk products may cause worse symptoms.
Diagnosis

Hydrogen breath test:

The person fasts overnight and then takes a lactose solution the following morning.
hydrogen in exhaled air. High levels of hydrogen indicate lactose intolerance.

Lactose tolerance test:

The person consumes a lactose solution,
blood samples collected to measure their glucose levels. If blood glucose levels
remain the same, the body has not broken down the lactose properly.

Stool sample test: Lactose tolerance tests and hydrogen breath tests are not
suitable for infants, so a physician may perform a stool test. High levels of acetate
and other fatty acids in the stool can be a sign of lactose intolerance.
Causes

It is caused by reduced or absent activity of lactase that prevents the

splitting of lactose.

This is due to three reasons congenital, secondary or developmental.

I.Congenital Absence from birth of lactase due to a mutation in the

gene responsible for creating lactose.

II.Secondary Due to diseases that destroy the lining of the small

intestine along with the lactase.

III.Developmental decrease in the amount of lactase that occurs after

childhood and persists into adulthood.
Risk Factors

Age Lactose intolerance usually starts after the age of 5 the condition is
uncommon in babies and young children.

Ethnicity Lactose intolerance is more common in certain ethnic and

racial populations. Lactose intolerance is more common in black,
Asian,Hispanic and American Indian populations.

Premature birth Infants born prematurely (28 to 32 weeks of gestation)

may have reduced levels of lactase, because this enzyme increases in
the fetus late in the third trimester.
Treatment
•Removing milk from the diet usually improves symptoms

•You can add lactase enzymes to regular milk or take them in

capsule or chewable tablet form.
(Galactosemia) - Galactose-1-Phosphate Uridyltransferase Deficiency

accumulation of galactose in blood

carbohydrate metabolism disorders and can be a lifet hreatening

illness during the newborn period.
Genetic metabolic disorder that affects an individual's
ability to metabolize the sugar galactose properly.
Galactosemia follows an autosomal recessive mode of
inheritance that confers a deficiency in
an enzyme responsible for adequate galactose
degradation.
Three types of galactosemia have been identified. They are
caused by a mutation in the GALE, GALK1, and GALT genes.
These three genes are responsible for making all of the enzymes
that are essential for breaking down (metabolizing) galactose. 
 Diagnosis
 newborn screening (NBS) for galactosemia

A galactosemia test is a blood test (from the heel of the infant) or urine

test that checks for three enzymes that are needed to change galactose
sugar that is found in milk and milk products into glucose,
 •
Glucose
 
•
Galactose

Cause

Lactose Galactose
Glucose

In individuals with galactosemia, the enzymes needed for

further metabolism of galactose (Galactokinase) galactose-
1-phosphate uridyltransferase) are severely diminished or
missing entirely, leading to toxic levels
of galactose or galactose 1-phosphate
 Effects

hepatomegaly (an enlarged liver)
cirrhosis, 
kidney failure, 
cataracts, 
vomiting, 
seizure, 
low blood sugar (hypoglycemia) ,
lethargy, 
brain damage,
ovarian failure
Long term complication of galactosemia includes:

Speech deficits
Ataxia
Dysmetria
Diminished bone density
Premature ovarian failure
Cataract
Treatment
The only treatment for classic galactosemia is
eliminating lactose and galactose from the diet (e.g. exclusion of
dairy products containing lactose)