It’s All in the genes

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

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It’s All in the genes

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