3. is a disease that is caused by an change or
mutation in an individual's DNA.
Genetic Disorder or Genetic Disease
_______________________________________
__
Genetic Abnormalities
____________________________
is caused by an abnormality in
an individual's DNA.
4. MUTATION
_________________
_
The changing of the structure of a gene,
resulting in a variant form that may be
transmitted to subsequent generations
caused by the alteration of single base
units in DNA, or the deletion, insertion,
or rearrangement of larger sections of
genes of chromosomes.
5. Genetic disorders can be grouped into
three main categories:
Single gene disorders: disorders caused
by defects in one particular gene.
Example : sickle cell anemia, cystic fibrosis,
and Huntington's disease.
6. Chromosome disorders: In these
disorders, entire chromosomes, or large
segments of them, are missing,
duplicated, or otherwise altered.
Example: Down’s syndrome
7. Multifactorial Disorder: These disorders
involve variations in multiple genes, often
coupled with environmental causes.
Example: cancer
9. Newborn screening (NBS) is a simple
procedure to find out if your baby has a
congenital metabolic disorder that may
lead to mental retardation and even death
if left untreated.
10. Phenylketonuria (PKU)
_________________________________
An inherited disorder that increases the levels of a
substance called phenylalanine in the blood.
Phenylalanine Is a building blocks of proteins(an
amino acid) that is obtained through the diet.
Found in all proteins and in some artificial
sweeteners.
11. PKU symptoms can range from mild to
severe.
Symptoms
________________
_
Symptoms are :
Seizures, tremors, or trembling and
shaking, stunted growth, hyperactivity, skin
conditions, such as eczema
a musty odor of their breath, skin, or urine
12. What Causes Phenylketonuria?
____________________________________
PKU is an inherited condition caused by
a defect in the PAH gene.
How Is Phenylketonuria Diagnosed?
_____________________________________
__
The screening test will be performed when
the baby is one to two days old and still in the
hospital by taking a blood sample.
13. How Is Phenylketonuria Treated?
______________________________________
_
People with PKU can relieve their symptoms
and prevent complications by following a
special diet and taking medications.
16. THYROID GLAND
_______________________
Thyroid gland is a butterfly-shaped
tissue in lower neck.
It makes iodine-containing hormones
that play an important role in
regulating growth, brain development,
and the rate of chemical reactions in
the body(metabolism).
17. Infants with congenital hypothyroidism are
usually born at term or after term.
They may have difficulty feeding and
experience constipation, and jaundice.
Often, affected infants are described as "good
babies" because they rarely cry and they
sleep most of the time.
Signs and symptoms
_______________________
18. The physical findings of hypothyroidism may
or may not be present at birth.
Signs include the following:
Goiter, dry skin, pallor and developmental
delay.
Large fontanelles
19. How are babies screened for
hypothyroidism?
Every baby should be checked for
hypothyroidism soon after birth. Screening
is performed at about five days of age with
a heel-prick blood test.
20. the treatment of congenital hypothyroidism is
early diagnosis and thyroid hormone
replacement. Optimal care may include
diagnosis before age 10-13 days and
normalization of thyroid hormone blood levels
by age 3 weeks.
Only levothyroxine is recommended for
treatment. Parents should be provided the
hormone in pill form and taught proper
administration.
Treatment
