Molecular basis of disease Presented by S.Mohammed Razeeth
<ul><li>Molecular basis of disease? </li></ul>
Discussion <ul><li>Phenylketonuria </li></ul><ul><li>Alkaptonuria </li></ul><ul><li>Albinism </li></ul>
Phenylketonuria <ul><li>PKU is an inherited disorder that increases the levels of phenylalanine in the blood </li></ul><ul...
Metabolic pathway
Symptom <ul><li>Early diagnosis is essential because symptoms are not obvious in a newborn infant.  </li></ul><ul><li>Ment...
Other symptoms may include <ul><li>Delayed mental and social skills </li></ul><ul><li>Head size significantly below normal...
Diagnosis of Phenylketonuria <ul><li>PKU is normally detected using the HPLC test </li></ul><ul><li>Guthrie test </li></ul...
Guthrie test
<ul><li>A small drop of blood is taken from the heel of a newborn  and applied to a card  </li></ul><ul><li>A small portio...
Treatment
pku
 
 
<ul><li>Alkaptonuria </li></ul>
Alkaptonuria <ul><li>Alkaptonuria -black urine disease  is a rare inherited genetic disorder of phenylalanine and tyrosine...
 
What genes are related to alkaptonuria? <ul><li>Mutations in the HGD gene cause alkaptonuria. </li></ul><ul><li>The HGD ge...
How do people inherit alkaptonuria? <ul><li>This condition is inherited in an autosomal recessive pattern </li></ul><ul><l...
 
Signs and symptoms <ul><li>It is asymptomatic, but later </li></ul><ul><li>sclera of the eyes may be pigmented </li></ul><...
 
 
 
Diagnosis <ul><li>Diagnostic testing can be performed using paper chromatography and thin layer chromatography </li></ul><...
Treatment <ul><li>No treatment demonstrated to reduce the complications. </li></ul><ul><li>Recommended treatments include ...
<ul><li>Albinism </li></ul>
<ul><li>Albinism  is a congenital disorder. </li></ul><ul><li>complete or partial absence of pigment in the skin, hair and...
causes <ul><li>Most forms of albinism are due to recessive alleles (genes) passed from both parents of an individual, thou...
Types <ul><li>Two types  </li></ul><ul><li>Oculocutaneous albinism  </li></ul><ul><li>Ocular albinism </li></ul>
<ul><li>In oculocutaneous albinism  pigment is lacking in the eyes, skin and hair. </li></ul><ul><li>In ocular albinism, o...
 
Symptom <ul><li>Light hair  </li></ul><ul><li>Light skin  </li></ul><ul><li>Light-colored eyes  </li></ul><ul><li>Reduced ...
 
 
<ul><li>Thank you </li></ul><ul><li>Meet again </li></ul>
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Phenylketonuria Alkaptonuria Albinism

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Phenylketonuria Alkaptonuria Albinism

  1. 1. Molecular basis of disease Presented by S.Mohammed Razeeth
  2. 2. <ul><li>Molecular basis of disease? </li></ul>
  3. 3. Discussion <ul><li>Phenylketonuria </li></ul><ul><li>Alkaptonuria </li></ul><ul><li>Albinism </li></ul>
  4. 4. Phenylketonuria <ul><li>PKU is an inherited disorder that increases the levels of phenylalanine in the blood </li></ul><ul><li>Due to defictive hepatic enzyme phenylalanine hydroxylase (PAH) . </li></ul><ul><li>Necessary to metabolize the amino acid phenylalanine ('Phe') to the amino acid tyrosine </li></ul>
  5. 5. Metabolic pathway
  6. 6. Symptom <ul><li>Early diagnosis is essential because symptoms are not obvious in a newborn infant. </li></ul><ul><li>Mental retardation may develop gradually </li></ul><ul><li>An early clue to the disease is light coloring of the skin, eczema (an itchy skin rash), and a musty odor. </li></ul>
  7. 7. Other symptoms may include <ul><li>Delayed mental and social skills </li></ul><ul><li>Head size significantly below normal </li></ul><ul><li>Hyperactivity </li></ul><ul><li>Jerking movements of the arms or legs </li></ul><ul><li>Mental retardation </li></ul><ul><li>Seizures </li></ul><ul><li>Skin rashes </li></ul><ul><li>Unusual positioning of hands </li></ul>
  8. 8. Diagnosis of Phenylketonuria <ul><li>PKU is normally detected using the HPLC test </li></ul><ul><li>Guthrie test </li></ul><ul><li>Devised by Dr Robert Guthrie (1916 - 1995) after the birth of his own child with PKU. </li></ul>
  9. 9. Guthrie test
  10. 10. <ul><li>A small drop of blood is taken from the heel of a newborn and applied to a card </li></ul><ul><li>A small portion of the dried disc is incubted on a petri dish plated with Bacillus subtilis bacteria in the presence of a growth inhibitor, B-2-thienyl-alanine. </li></ul><ul><li>The presence of high levels of Phe in the blood sample overcomes the inhibition, and allows the bacteria to grow. </li></ul>
  11. 11. Treatment
  12. 12. pku
  13. 15. <ul><li>Alkaptonuria </li></ul>
  14. 16. Alkaptonuria <ul><li>Alkaptonuria -black urine disease is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. </li></ul><ul><li>Due to a defect in the enzyme homogentisate 1,2-dioxygenase. </li></ul>
  15. 18. What genes are related to alkaptonuria? <ul><li>Mutations in the HGD gene cause alkaptonuria. </li></ul><ul><li>The HGD gene provides instructions for making an enzyme called homogentisate oxidase. </li></ul><ul><li>Mutations in the HGD gene impair the enzyme's role in this process. </li></ul>
  16. 19. How do people inherit alkaptonuria? <ul><li>This condition is inherited in an autosomal recessive pattern </li></ul><ul><li>which means both copies of the gene in each cell have mutations. </li></ul><ul><li>The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. </li></ul>
  17. 21. Signs and symptoms <ul><li>It is asymptomatic, but later </li></ul><ul><li>sclera of the eyes may be pigmented </li></ul><ul><li>the skin may be darkened in sun-exposed areas </li></ul><ul><li>Urine may turn brown if collected and left exposed to open air. </li></ul><ul><li>The accumulation of homogentisic acid in tissues. </li></ul>
  18. 25. Diagnosis <ul><li>Diagnostic testing can be performed using paper chromatography and thin layer chromatography </li></ul><ul><li>Both blood plasma and urine can be used for diagnosis. </li></ul><ul><li>In alkaptonuria plasma levels are 6.6 micrograms/ml on average, and urine levels are on average 3.12 mmol/mmol of creatinine </li></ul>
  19. 26. Treatment <ul><li>No treatment demonstrated to reduce the complications. </li></ul><ul><li>Recommended treatments include dietary restriction of phenylalanine and tyrosine. </li></ul><ul><li>Large doses of ascorbic acid (vitamin C). Must taken. </li></ul>
  20. 27. <ul><li>Albinism </li></ul>
  21. 28. <ul><li>Albinism is a congenital disorder. </li></ul><ul><li>complete or partial absence of pigment in the skin, hair and eyes due to absence or defect of an enzyme involved in the production of melanin </li></ul>
  22. 29. causes <ul><li>Most forms of albinism are due to recessive alleles (genes) passed from both parents of an individual, though some rare forms are inherited from only one parent. </li></ul><ul><li>Mutation can also cause albinism. </li></ul><ul><li>Affect all vertebrates, </li></ul>
  23. 30. Types <ul><li>Two types </li></ul><ul><li>Oculocutaneous albinism </li></ul><ul><li>Ocular albinism </li></ul>
  24. 31. <ul><li>In oculocutaneous albinism pigment is lacking in the eyes, skin and hair. </li></ul><ul><li>In ocular albinism, only the eyes lack pigment </li></ul>
  25. 33. Symptom <ul><li>Light hair </li></ul><ul><li>Light skin </li></ul><ul><li>Light-colored eyes </li></ul><ul><li>Reduced pigmentation in iris </li></ul><ul><li>Reduced retinal pigmentation </li></ul><ul><li>Vision problems </li></ul><ul><li>Reduced visual acuity </li></ul><ul><li>Involuntary eye movements </li></ul><ul><li>Increased light sensitivity </li></ul>
  26. 36. <ul><li>Thank you </li></ul><ul><li>Meet again </li></ul>

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