6604025
It’s All in the genes
- Mandel’s law
- Factors
determine
traits
- some alleles
are dominant
and some are
recessive
- law of dominance
- Dominant allele
- A trait that always shows
up when an allele
is present.
- homozygous DD
- heterozygous Dd
- A trait that always shows
up when an allele
is present.
- Recessive alleles
- Only visible
when paired
with another
recessive
allele.
- homozygous dd
- Only visible
when paired
with another
recessive
allele.
- law of dominance
- alleles separate
during gamete
formation
- law of segregation
- law of segregation
- Factors
determine
traits
- pedigree
- A chart shows the
genotypes and the
phenotypes of a
certain ancestry.
- A chart shows the
genotypes and the
phenotypes of a
certain ancestry.
- Inborn Errors of Metabolism
- Group of disorders in which a single gene
defect causes a clinically significant block
in a metabolic pathway resulting either in
accumulation of substrate behind the
block or deficiency of the product.
- defects in Metabolic
Pathway of Galactose
- Galactose structure
- Galactosemia
- A genetic disorder that leads to inability to
metabolize galactose to glucose.
- autosomal recessive
mode of inheritance.
- Causes of galactosemia
- lack one of the enzymes
- enzyme : Galactokinase
enzyme: Galactose-1-phosphate
uridyltransferase
enzyme: 4-epimerase
- enzyme : Galactokinase
enzyme: Galactose-1-phosphate
uridyltransferase
enzyme: 4-epimerase
- lack one of the enzymes
- Types
- Classic Galactosemia (Type l)
- Galactokinase Deficiency (TypeII)
- udp-galactose-4-epimerase (Type lll)
- Classic Galactosemia (Type l)
- Signs and symptoms
- Ascites
- a pathologic accumulation and buildup
of fluid within the abdominal cavity.
- a pathologic accumulation and buildup
of fluid within the abdominal cavity.
- Poor feeding , Poor
weight gain ,Diarrhea
Vomiting
Dehydration , Loss of
skin turgor
Irritability
Convulsions
Lethargy
- jaundice
- is defined as a yellow discoloration in the
newborn skin and sclera of the eyes.
- is defined as a yellow discoloration in the
newborn skin and sclera of the eyes.
- Hepatomegaly
- is the enlargement of the liver beyond its normal
size and it may indicate many diseases.
- is the enlargement of the liver beyond its normal
size and it may indicate many diseases.
- Infantile Anorexia
- infantile anorexia is a feeding
disorder that is characterized by
extreme food refusal, growth
deficiency, and an apparent lack of
appetite.
- infantile anorexia is a feeding
disorder that is characterized by
extreme food refusal, growth
deficiency, and an apparent lack of
appetite.
- Ascites
- Complications
- Neurologic dysfunction
Ovarian failure , Sepsis and
shock , Death , Cataracts
Cirrhosis of the liver
Delayed growth
- Neurologic dysfunction
Ovarian failure , Sepsis and
shock , Death , Cataracts
Cirrhosis of the liver
Delayed growth
- Tests
- blood test
- increase in galactose 1- phosphate
- hypoglycemia
- increase in galactose 1- phosphate
- urine test
- Fecl3: Negative
- Fecl3: Negative
- prenatal tests
- increase in liver enzymes
- increase in bilirubin
- increase in liver enzymes
- blood test
- Treatment and Management
of Galactosemia
- Galactose and lactose diet
- enzyme replacement and organ transplantation
- Galactose and lactose diet
- A genetic disorder that leads to inability to
metabolize galactose to glucose.
- Galactose structure
- Group of disorders in which a single gene
defect causes a clinically significant block
in a metabolic pathway resulting either in
accumulation of substrate behind the
block or deficiency of the product.
- Breast milk vs Cow’s milk
- Antibodies
- no antibodies in cow's milk
- no antibodies in cow's milk
- Water
- The amount of water in cow’s milk can’t suit
the baby’s need the way breast milk can
- The amount of water in cow’s milk can’t suit
the baby’s need the way breast milk can
- Fat
- more fat than cow’s milk
- more fat than cow’s milk
- Proteins
- The amount of protein in cow’s milk is at least double
the amount in breast milk and is also a different and
less digest
- The amount of protein in cow’s milk is at least double
the amount in breast milk and is also a different and
less digest
- Carbohydrates
- more carbohydrates
than cow’s milk
- more carbohydrates
than cow’s milk
- Vitamins and
minerals
- contain all of your baby’s vitamin and mineral
requirements, until about age 6 months
- contain all of your baby’s vitamin and mineral
requirements, until about age 6 months
- Antibodies
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