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Classification of congenital anomalies, acquired disturbances of amino acid metabolism and protein metabolism

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Ganesh Aderao
Ganesh Aderao

Amino acid metabolism disorders like phenylketonuria, tyrosinemia and protein metabolism disorders along with classification of congenital anomlies

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Classification of congenital anomalies, disturbances of amino acid metabolism and protein metabolism 02-12-2017 Presented by Aderao Ganesh N. P-2063 Submitted to, Dr. Narayan Dutta Principal scientist
Congenital anomalies Can be defined as structural or functional anomalies that occur during intrauterine life (can be identified prenatally, at birth, or sometimes may only be detected later in infancy, such as hearing defects) Also known as Birth defects, Congenital disorders or congenital malformations. 02-12-2017
Causes of 2.68 million deaths during the neonatal period in 2015, worldwide 02-12-2017 (WHO, 2015)
Causes of congenital anomalies Genetic factors Inheritance of anomaly coding genes Mutations Socioeconomic and demographic factors lack of access to sufficient, nutritious foods and poorer access to healthcare and screening for pregnant Maternal age Environmental factors Maternal exposure to certain pesticides and other chemicals, as well as certain medications, alcohol, tobacco and radiation during pregnancy Infections Maternal infections such as syphilis and rubella 02-12-2017
Classification of the congenital anomalies Primary anomalies abnormality in genetic composition that will lead to defect in the structure of an organ or a part of an organ source is internal factor 02-12-2017
Classification congenital anomalies Secondary anomalies Interruption or disruption of the normal development of an organ due to external factors like teratogenic agents e.g. infection, chemical substance, ionizing radiation or a trauma most widespread infectious agents are the rubella virus, the cytomegaly virus and toxoplasma gondii 02-12-2017 Phocomelia
Important to note Embryopathies (14-56 days) Foetopathies (56 days onwards) Congenital abnormality is not necessarily to be inherited it can be acquired during ontogenesis 02-12-2017
Disturbances of metabolism Due to defects in the breakdown of amino acids or in the bodys ability to get amino acids into cells Garrods hypothesis: A B X C D (Toxic metabolite) 02-12-2017
Disturbances of metabolism An inherited enzyme deficiency leading to the disruption of normal bodily metabolism Accumulation of a toxic substrate (compound acted upon by an enzyme in a chemical reaction) Impaired formation of a product normally produced by the deficient enzyme 02-12-2017
Types of amino acid metabolism disorders PHENYLKETONURIA MAPLE SYRUP URINE DISEASE HOMOCYSTINURIA TYROSINEMIA ALCAPTONURIA GLYCINURIA 02-12-2017
PHENYLKETONURIA Due to lack of the enzyme Phenylalanine hydroxylase. Phenylalanine hydroxylase required for conversion of phenylalanine to tyrosine. Phenylanine accumulate in blood and reaches to brain, toxic to brain (in excess conc.) 02-12-2017 (Guthrine and Susi 1963).
02-12-2017
PHENYLKETONURIA Nervous symptoms are observed e.g. Seizures, aggressive or self-injurious behavior, hyperactivity and intellectual disability. Treatment: Restrict phenylalanine intake Restrict meat, milk, or other common foods that contain protein Special nutritional products, including infant formula without phenylalanine, are also available that should be fed. 02-12-2017
MAPLE SYRUP URINE DISEASE Maple syrup urine disease (MSUD) is caused by lack of the branched- chain alpha-ketoacid dehydrogenase complex (BCKAD) enzymes (Mackenzie and Woolf, 1959; Dancis et al., 1959). These enzymes are responsible for breaking down the branched chain amino acids i.e. leucine, isoleucine, and valine that are in protein-rich02-12-2017
MAPLE SYRUP URINE DISEASE Accumulation of these amino acids and their toxic by-products (ketoacids) results in the serious health problems associated with MSUD Excretion of these compounds also impart maple syrup smell to sweat and other body secretions Causes neurologic changes, 02-12-2017
HOMOCYSTINURIA Caused by lack of the enzyme cystathionine beta synthase - needed to metabolize homocysteine 02-12-2017 (Mudd et al., 1964, Mudd et al., 1985).
02-12-2017
HOMOCYSTINURIA Symptoms Decreased vision and Skeletal abnormalities Spontaneously blood clotting resulting in strokes High blood pressure Treatment and control measures Improved when given vitamin B6 (pyridoxine) or vitamin B12 (cobalamin) (Wilcken et al., 1997) 02-12-2017
TYROSINEMIA Caused by lack of the enzyme 4-hydroxyphenylpyruvate dioxygenase Mostly affects the liver and the kidneys 02-12-2017(Lindblad et al., 1977; Kvittingen, 1986)
02-12-2017
TYROSINEMIA Types of Tyrosinemia Type I (most common) Type II Symptoms Type I - dysfunction of the liver, kidneys, and nerves, resulting in irritability, rickets, or even liver failure and death Restriction of tyrosine is of little help Type II -intellectual disability and frequently develop sores on the skin and eyes. Restriction of tyrosine in the diet can prevent problems from developing. 02-12-2017
Disturbances of protein metabolism Defective Proteins and Disease Oxygen carrying proteins Connective tissue proteins Clotting factors 02-12-2017
OXYGEN CARRYING PROTEINS Sickle-Cell Anemia B-Talassemia A-Talassemia 02-12-2017
CONNECTIVE TISSUE PROTEINS Occipital Horn Syndrome Cutis Laxa, X-linked Osteogenesis Imperfecta Type I Osteogenesis Imperfecta Type I-C Osteogenesis Imperfecta Silent Type II/III Osteogenesis Imperfecta Type IV Osteogenesis Imperfecta Neonatal Lethal form 02-12-2017
CLOTTING FACTORS Afibrinogenemia complete loss of fibrinogen, Factor I Dysfibrinogenemia dysfunctional fibrinogen, Factor I Factor II Disorders Factor III (tissue factor) is the only coagulation factor for which a congenital defect has not been identified Factor V Deficiency Labile Factor deficiency Factor VII Deficiency Hemophilia A Factor VIII deficiency Hemophilia B Factor IX deficiency Factor X Deficiency Factor XI Deficiency Rosenthal Syndrome, Plasma Thromboplastin Antecedent (PTA) deficiency Factor XII Deficiency Hageman factor deficiency 02-12-2017
Conclusion Most of the disturbances in metabolism are caused due to point mutation in genes coding for the enzymes Theses disturbances can be treated by restricting the diet with the toxic compound Also, can be prevented by avoiding inbreeding of diagnosed individuals. 02-12-2017
02-12-2017

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Classification of congenital anomalies, acquired disturbances of amino acid metabolism and protein metabolism

  • 1. Classification of congenital anomalies, disturbances of amino acid metabolism and protein metabolism 02-12-2017 Presented by Aderao Ganesh N. P-2063 Submitted to, Dr. Narayan Dutta Principal scientist
  • 2. Congenital anomalies Can be defined as structural or functional anomalies that occur during intrauterine life (can be identified prenatally, at birth, or sometimes may only be detected later in infancy, such as hearing defects) Also known as Birth defects, Congenital disorders or congenital malformations. 02-12-2017
  • 3. Causes of 2.68 million deaths during the neonatal period in 2015, worldwide 02-12-2017 (WHO, 2015)
  • 4. Causes of congenital anomalies Genetic factors Inheritance of anomaly coding genes Mutations Socioeconomic and demographic factors lack of access to sufficient, nutritious foods and poorer access to healthcare and screening for pregnant Maternal age Environmental factors Maternal exposure to certain pesticides and other chemicals, as well as certain medications, alcohol, tobacco and radiation during pregnancy Infections Maternal infections such as syphilis and rubella 02-12-2017
  • 5. Classification of the congenital anomalies Primary anomalies abnormality in genetic composition that will lead to defect in the structure of an organ or a part of an organ source is internal factor 02-12-2017
  • 6. Classification congenital anomalies Secondary anomalies Interruption or disruption of the normal development of an organ due to external factors like teratogenic agents e.g. infection, chemical substance, ionizing radiation or a trauma most widespread infectious agents are the rubella virus, the cytomegaly virus and toxoplasma gondii 02-12-2017 Phocomelia
  • 7. Important to note Embryopathies (14-56 days) Foetopathies (56 days onwards) Congenital abnormality is not necessarily to be inherited it can be acquired during ontogenesis 02-12-2017
  • 8. Disturbances of metabolism Due to defects in the breakdown of amino acids or in the bodys ability to get amino acids into cells Garrods hypothesis: A B X C D (Toxic metabolite) 02-12-2017
  • 9. Disturbances of metabolism An inherited enzyme deficiency leading to the disruption of normal bodily metabolism Accumulation of a toxic substrate (compound acted upon by an enzyme in a chemical reaction) Impaired formation of a product normally produced by the deficient enzyme 02-12-2017
  • 10. Types of amino acid metabolism disorders PHENYLKETONURIA MAPLE SYRUP URINE DISEASE HOMOCYSTINURIA TYROSINEMIA ALCAPTONURIA GLYCINURIA 02-12-2017
  • 11. PHENYLKETONURIA Due to lack of the enzyme Phenylalanine hydroxylase. Phenylalanine hydroxylase required for conversion of phenylalanine to tyrosine. Phenylanine accumulate in blood and reaches to brain, toxic to brain (in excess conc.) 02-12-2017 (Guthrine and Susi 1963).
  • 13. PHENYLKETONURIA Nervous symptoms are observed e.g. Seizures, aggressive or self-injurious behavior, hyperactivity and intellectual disability. Treatment: Restrict phenylalanine intake Restrict meat, milk, or other common foods that contain protein Special nutritional products, including infant formula without phenylalanine, are also available that should be fed. 02-12-2017
  • 14. MAPLE SYRUP URINE DISEASE Maple syrup urine disease (MSUD) is caused by lack of the branched- chain alpha-ketoacid dehydrogenase complex (BCKAD) enzymes (Mackenzie and Woolf, 1959; Dancis et al., 1959). These enzymes are responsible for breaking down the branched chain amino acids i.e. leucine, isoleucine, and valine that are in protein-rich02-12-2017
  • 15. MAPLE SYRUP URINE DISEASE Accumulation of these amino acids and their toxic by-products (ketoacids) results in the serious health problems associated with MSUD Excretion of these compounds also impart maple syrup smell to sweat and other body secretions Causes neurologic changes, 02-12-2017
  • 16. HOMOCYSTINURIA Caused by lack of the enzyme cystathionine beta synthase - needed to metabolize homocysteine 02-12-2017 (Mudd et al., 1964, Mudd et al., 1985).
  • 18. HOMOCYSTINURIA Symptoms Decreased vision and Skeletal abnormalities Spontaneously blood clotting resulting in strokes High blood pressure Treatment and control measures Improved when given vitamin B6 (pyridoxine) or vitamin B12 (cobalamin) (Wilcken et al., 1997) 02-12-2017
  • 19. TYROSINEMIA Caused by lack of the enzyme 4-hydroxyphenylpyruvate dioxygenase Mostly affects the liver and the kidneys 02-12-2017(Lindblad et al., 1977; Kvittingen, 1986)
  • 21. TYROSINEMIA Types of Tyrosinemia Type I (most common) Type II Symptoms Type I - dysfunction of the liver, kidneys, and nerves, resulting in irritability, rickets, or even liver failure and death Restriction of tyrosine is of little help Type II -intellectual disability and frequently develop sores on the skin and eyes. Restriction of tyrosine in the diet can prevent problems from developing. 02-12-2017
  • 22. Disturbances of protein metabolism Defective Proteins and Disease Oxygen carrying proteins Connective tissue proteins Clotting factors 02-12-2017
  • 23. OXYGEN CARRYING PROTEINS Sickle-Cell Anemia B-Talassemia A-Talassemia 02-12-2017
  • 24. CONNECTIVE TISSUE PROTEINS Occipital Horn Syndrome Cutis Laxa, X-linked Osteogenesis Imperfecta Type I Osteogenesis Imperfecta Type I-C Osteogenesis Imperfecta Silent Type II/III Osteogenesis Imperfecta Type IV Osteogenesis Imperfecta Neonatal Lethal form 02-12-2017
  • 25. CLOTTING FACTORS Afibrinogenemia complete loss of fibrinogen, Factor I Dysfibrinogenemia dysfunctional fibrinogen, Factor I Factor II Disorders Factor III (tissue factor) is the only coagulation factor for which a congenital defect has not been identified Factor V Deficiency Labile Factor deficiency Factor VII Deficiency Hemophilia A Factor VIII deficiency Hemophilia B Factor IX deficiency Factor X Deficiency Factor XI Deficiency Rosenthal Syndrome, Plasma Thromboplastin Antecedent (PTA) deficiency Factor XII Deficiency Hageman factor deficiency 02-12-2017
  • 26. Conclusion Most of the disturbances in metabolism are caused due to point mutation in genes coding for the enzymes Theses disturbances can be treated by restricting the diet with the toxic compound Also, can be prevented by avoiding inbreeding of diagnosed individuals. 02-12-2017