1. Congenital adrenal hyperplasia (CAH) and galactosemia are genetic disorders caused by mutations that result in deficiencies of certain enzymes. 2. CAH occurs due to a lack of 21-hydroxylase, preventing the production of cortisol and aldosterone. This can cause low blood pressure, dehydration, and ambiguous genitalia in females. Galactosemia is caused by deficiencies in enzymes involved in breaking down galactose. 3. Treatment for both involves eliminating the substance the body cannot process - corticosteroids and restricting dairy for CAH and galactose for galactosemia. Early diagnosis and treatment can prevent complications.

2. DISCRIMINATION OF TERMS
Genetic Disease Genetic Disorder Genetic Abnormality
A genetic disorder or disease is caused by an abnormality
in an individual's DNA
Genetic abnormality is an
abnormality in the genome,
especially a condition that is
present from birth
(congenital)
Non-contagious Non-contagious
Hereditary/ Inherited Accidental/Random
Hinder normal physiological function Causes Genetic
Disease/Genetic Disorder
Non-curable ;
Treatable
Possible cure by repairing
faulty gene
Detectable Detectable

3. TYPES OF GENETIC DISORDER
Congenital Adrenal
Hyperplasia (CAH)
Galactosemia

4. Congenital Adrenal
Hyperplasia (CAH)

5. What is CAH?
It is a condition about the
hormones. In people with CAH,
the adrenal glands cannot make
enough hormones due to the lack
of enzymes. As they start working
harder in attempts to make more
cortisol they increase in size,
resulting in hyperplasia.

6. What are Hormones?
Hormones are
chemicals that send
messages to other
organs or tissues of
the body, telling them
to do specific things.

7. Hormones affected: Cortisol
Cortisol- this is the body’s
natural steroid and has three
main functions:
helping to control the blood sugar
level
helping the body deal with stress
helping to control blood pressure
and blood circulation

8. Hormones affected: Aldosterone
Aldosterone – this
helps regulate the
blood pressure by
controlling how much
salt is retained in the
body.

9. Hormones affected: Androgens
These are male-
like sex hormones
that plays role in
puberty

10. Cause of CAH
In CAH, the body is
missing an enzyme
(chemical substance)
that helps the adrenal
glands to release the
hormones. As a result
hormones cannot be
produced

11. Missing Enzyme

21-Hydroxylase- make
cortisol and aldosterone in the
adrenal glands

12. Genetic Etiology
21-hydroxylase deficiency results from a
unique mutation with two highly
homologous near-copies in series consisting
of an active gene (CYP21A) and an inactive
pseudogene (CYP21P). Mutant alleles
result from recombination between the
active and pseudo genes (gene conversion)

14. Types of CAH
There are two major types of
congenital adrenal
hyperplasia:
Classic CAH. This more-severe
form of the disease is usually
detected in infancy.
Nonclassic CAH. This milder
form may not become evident
until childhood or early
adulthood.

15. Forms of Classic CAH
Classified as having the
SALT-WASTING FORM
SIMPLE-VIRILIZING
FORM

16. Classic CAH – “Salt-wasting form”
About 75% of babies
with classic CAH have
the ‘salt-wasting’ form. It
occurs when the adrenal
glands make low amount
of cortisol and
aldosterone

17. Babies who do not make enough
aldosterone will start losing too
much water that can quickly
cause dehydration and salt in
their urine. This can lead to low
blood pressure, a lower sodium
level and a higher potassium
leve. Sodium and potassium
normally work together to help
maintain the right balance of
fluids in your body.
Effects of “Salt-wasting form”

18. Classic CAH – Simple virilizing form
About 25% of babies with classic CAH
have the simple virilizing form.
It occurs when the adrenal glands make
too much androgen.

19. Effects of Simple virilizing form
Excess androgen hormones are made by the
fetus. This causes the genitals of female
fetuses to develop male-like features. Baby
girls born with classic CAH often have an
enlarged clitoris. In some girls this is may
look like a small penis. Baby girls may also
have labia which are fused together, may be
wrinkled and may look more like a male
scrotum.

21. A child with classic CAH may experience:
1. A lack in the production of cortisol in both the salt-losing and
simple-virilizing forms. Most of the problems caused by classic
CAH are related to a lack of cortisol, which plays an important role in
regulating your blood pressure, maintaining blood sugar and energy
levels, and protecting your body against stress.
2. A lack in the production of aldosterone in the salt-losing form.
This can lead to low blood pressure, a lower sodium level and a
higher potassium level. Sodium and potassium normally work
together to help maintain the right balance of fluids in your body.
3. Excess production of the male sex hormones (androgens such as
testosterone). This can result in short height, early puberty and in
females, abnormal genital development while in the womb.

22. Nonclassic CAH
This form of CAH is milder than classic CAH.
These individuals have a partial enzyme
deficiency, and thus have better cortisol
production, normal aldosterone production,
and lower levels of adrenal androgens. They do
not suffer “adrenal crisis.”
The condition is not identified on routine infant
blood screening and often only becomes
evident in late childhood or early adulthood.

23. Effects of Nonclassic CAH
Some of the traits that are sometimes seen in both
males and females with nonclassic CAH include:
Rapid growth in childhood and early teens with short
adult height
Severe acne
Early puberty with development of pubic hair,
underarm hair and body odor during childhood
Excess hair on the face and other parts of the body
Male-pattern baldness (hair loss near the temples)

24. Diagnosis
Prenatal testing- tests to diagnose CAH in
fetuses can be done when siblings have the
disease or family members are known to
carry the gene defect. One of these tests
may be done:
• Amniocentesis. This procedure involves using
a needle to withdraw a sample of amniotic fluid
from the womb, and then examining the cells.
• Chorionic villus sampling. This test involves
withdrawing cells from the placenta for
examination.

25. Diagnosis (continued)
Newborns, infants and children screening
• Physical exam. The doctor examines your child and
evaluates symptoms
• Blood and urine tests. Tests used to diagnose CAH
measure levels of hormones produced by the adrenal
glands.
• Gene testing. In older children and young adults,
genetic testing may be needed to diagnose CAH.
• Testing to determine a child's sex. In female infants
who have severe ambiguous genitalia, tests can be
done to analyze chromosomes to identify genetic sex.

26. Treatment
Medications
Corticosteroids to replace cortisol ― this is
the main treatment
Mineralocorticoids to replace aldosterone to
help retain salt and get rid of excess potassium
Salt supplements to help retain salt

27. Treatment (continued)
Monitoring the effectiveness of medication includes
regularly scheduled:

Physical exams. The doctor can check your child's growth and
development, including monitoring changes in height, weight,
blood pressure and bone growth.

Monitoring for side effects. The doctor can also monitor your
child for side effects, such as the loss of bone mass and
impaired growth, particularly if steroid-type replacement
medication doses are high and used long term.

Blood tests to check hormone levels. It's critical to have
regular blood tests that indicate whether medications need
adjusting.

28. Treatment (continued)
Possible reconstructive surgery for females
In some female infants with severe ambiguous genitalia
as a result of classic CAH, reconstructive surgery to
normalize the appearance and function of the genitals
may be recommended.
Prenatal management
When identified before birth, treatment for CAH can
begin while the fetus is still in the womb. A synthetic
corticosteroid that crosses the placenta to the infant can
be taken by the mother during pregnancy. This may
reduce the secretion of male hormones (androgens),
allowing female genitals to develop normally.

29. Prevalence/ Frequency
The incidence
of the disease is
approximately 1
in 10,000 live
births.

30. Mode of Inheritance

31. GALACTOSEMIA

32. What is Galactosemia
A rare metabolic disorder that affects how
the body processes a simple sugar called
galactose
Galactosemia or “galactose diabetes,” is a
rare genetic disease, in which the lack one
of the enzymes needed to convert galactose
to glucose results in the buildup of
galactose in the blood and a subsequent
damage of the liver, brain, kidneys and eyes

33. What is a galactose?
A monosaccharide that is
of considerable
importance to the human
organism
Also called milk sugar
Primarily part of a larger
sugar called lactose, which
is found in all dairy
products

34. Functions of Galactose
In the human body, most of the ingested
galactose is converted to glucose, which can
provide 4.1 kilocalories per gram of energy.

35. Causes of Galactosemia
Galactosemia occurs when the following
enzymes are missing or not functional:
1) galactose-1-phosphate
uridyltransferase
2) galactokinase 1
3) UDP Galactose epimerase

36. Role of Enzymes
This liver enzymes are
responsible for breaking down
galactose (a sugar byproduct
of lactose found in breast
milk, cow’s milk and other
dairy foods) into glucose.

37. Genetic Etmiology
Mutation of GALT gene that results to the
lack of enzyme (galactose-1-phosphate
uridyltransferase)
Mutation of GALK1 gene that results to
the lack of enzyme (galactokinase 1)
Mutation of GALE gene that results to the
lack of enzyme (UDP galactose epimerase)

38. Types of Galactosemia
Classic galactosemia, the most common type of
galactosemia that result from lack of galactose-1-
phosphate uridyltransferase. Detectable at birth
Galactosemia type II, that results from lack of
galactokinase 1. Undetectable at birth
Galactosemia type III, that results from lack of
UDP galactose epimerase. Undetectable at birth

39. Effects of Classic Galactosemia,
type II, and type III
lack of energy (lethargy)
a failure to gain weight and grow as expected
(failure to thrive)
yellowing of the skin and whites of the eyes
(jaundice), liver damage, and abnormal bleeding.
increased risk of delayed development, clouding
of the lens of the eye (cataract), speech
difficulties, and intellectual disability.

40. Diagnosis
Galactosemia can be diagnosed through
blood tests. The disease is detected by
measuring the level of enzyme in red blood
cells, white blood cells or liver. Affected
patients have no enzyme activity
Carriers (parents) have intermediate enzyme
activity (about half the normal level).

41. Treatment
Treatment is based on the elimination of
galactose from the diet. This may be done
in the early neonatal period by stopping
breast feeding and by the administration of
diets which contain no lactose or galactose,
(NutramigenR, PregestimilR).

42. Prevalence/Frequency
The incidence of
the disease is
approximately 1
in 20,000 live
births.

43. Mode of Inheritance