Its all in the gene

Metabolism
1. Metabolic pathways
  1. glycolysis
  2. Citric acid cycle
  3. oxidative phosphorylation
  4. pentose phosphate pathway
  5. urea cycle
  6. fatty acid B-oxidation
  7. gluconeogenesis
Inborn errors of metabolism
1. Inherited metabolic disease
  1. Autosomal Recessive Genes
2. General Features
  1. poor feeding
  2. vomiting
  3. diarrhea
  4. hypotonia
  5. Seizures
  6. Lethargy
  7. Dehydration
    1. Mild to moderate
    2. Severe
3. Clinical features
  1. Hypoglycemia
  2. Hypertonicity
  3. severe metabolic acidosis
  4. Myopathy
  5. Urine Odor
  6. Cerebral palsy
  7. Respiratory distress
  8. Frequent Infections
  9. Organomegaly
4. Tests
  1. Blood test
  2. Urine test
  3. Imaging tests
5. Treatment
  1. Dietary restriction
  2. Vitamins
  3. Enzyme replacment
  4. Gene therapy
  5. Organ transplantation
  6. Dialysis
  7. Dietary suplement
6. Physical examination
  1. distinctive facial features
  2. measurements
    1. Head circumferences
    2. Distance between eyes
    3. Arms & legs length
  3. specialized examinations
  4. Clinical finding
7. Galactocemia
  1. causes
    1. deficiency of GALT
    2. Deficiency of epimerase
    3. deficiency of galactokinase
  2. clinical features
    1. irritability
    2. convulasion
    3. lethargy
    4. vomiting
    5. abdominal destintion
      1. Causes
        Fat
        Faeces
        Fetus
        Flatus
        Fluid
    6. poor feeding
    7. Jaundices
      1. Causes
        Alcohol abuse
        liver unfection
        Liver cancer
        Gallstone
        Blood disorders
        Pancreatic cancer
  3. investigation
    1. prenatal test
    2. genetic testing
Breast, cow &formula milk
Gene expression
1. Transcription
2. Translation
Genetic disorders
1. Chromosomal abnormalities
2. Single gene defect
3. Multifactorial problems
4. Teratogenic problems
Mendel principles
1. Fundamental theory of heredity
2. Principle of segregation
3. Principle of independent assortment
4. Exception of Mendel's rule
Pedigree
1. A chart that show the genotypes and phenotypes of a certain ancestry
Consanguinity
1. union between individuals related as 2nd cousins or closer

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Its all in the gene

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	Criado por Batool Aldaher quase 8 anos atrás