It’s All in the genes

It’s All in the genes

1. 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
     • Recessive alleles
       • Only visible when paired with another recessive allele.
       • homozygous dd
   • alleles separate during gamete formation
     • law of segregation

2. pedigree

   • A chart shows the genotypes and the phenotypes of a certain ancestry.

3. 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
       • Types
         • Classic Galactosemia (Type l)
         • Galactokinase Deficiency (TypeII)
         • udp-galactose-4-epimerase (Type lll)
       • Signs and symptoms
         • Ascites
           • 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.
         • Hepatomegaly
           • 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.
       • Complications
         • Neurologic dysfunction Ovarian failure , Sepsis and shock , Death , Cataracts Cirrhosis of the liver Delayed growth
       • Tests
         • blood test
           • increase in galactose 1- phosphate
           • hypoglycemia
         • urine test
           • Fecl3: Negative
         • prenatal tests
           • increase in liver enzymes
           • increase in bilirubin
       • Treatment and Management of Galactosemia
         • Galactose and lactose diet
         • enzyme replacement and organ transplantation

4. Breast milk vs Cow’s milk

   • Antibodies
     • 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
   • Fat
     • 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
   • Carbohydrates
     • more carbohydrates than cow’s milk
   • Vitamins and minerals
     • contain all of your baby’s vitamin and mineral requirements, until about age 6 months

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