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GRACIOUS COLLEGE OF NURSING
RAIPUR C.G
Inborn Errors of Metabolism
PRESENTED BY
OM VERMA
ASSISTANT PROFESSOR
Breakdown
Breakdown
Inborn errors of metabolism are rare genetic
(inherited) disorders in which the body
cannot properly turn food into energy. The
disorders are usually caused by defects in
specific proteins (enzymes) that help break
down (metabolize) parts of food.
down (metabolize) parts of food.
According to S.S.Randhawa
Inborn errors of metabolism are a
heterogeneous group of disorders that
may be inherited or may occur as the
result of spontaneous mutations. These
diseases involve failure of the metabolic
pathways involved in either the break-
pathways involved in either the break-
down or storage of carbohydrates, fatty
acids, and proteins.
According to AND
METABOLIC GENETIC DEFECT
There are 3 metabolic genetic defect
1. Phenyl ketonuria
2. Galactosemia
3. Cystic fibrosis
1. Phenyl-ketonuria
Phenylketonuria (PKU) is an inborn error of
phenylalanine metabolism (commonly
known as PKU) is an inherited disorder that
known as PKU) is an inherited disorder that
increases the levels of a substance called
phenylalanine in the blood. Phenylalanine is
a building block of proteins (an amino acid )
that is obtained through the diet.
Etiopathogenesis
Phenyla-lanine metabolism caused by the
deficiency of phenylalanine hydroxylase.
Deficiency of phenylalanine hydroxylase
Deficiency of phenylalanine hydroxylase
result in inability to convert Phenyla-lanine
into tyrosine ( essential component for the
production of several important brain chemicals
called neurotransmitters, including epinephrine,
norepinephrine, and dopamine.. )
Phenyla-lanine ( amino acid ) accumulation of the blood
HyperPhenyla-laninemia and tyrosine deficiency tyrosine
required for synthesis of melanin and lead deficiency of
melanin pigment.
Excessive Phenyla-lanine is metabolized in toxicity
Excessive Phenyla-lanine is metabolized in toxicity
They caused brain damage and result
mental retardation
Galactosemia is a condition in which
the body is unable to use (metabolize)
the simple sugar galactose. It is an
2. Galactosemia
the simple sugar galactose. It is an
autosomal recessive disorder of
galactose metabolism characterized
by inability to convert galactose to
glucose due lack of galactatose.
Galactosemia occurs due to disruptions or changes
(mutations) in the GALT galactose- 1-
phosphate uridylyl-transferase. is a Protein Coding
Gene
Etiopathogenesis
Resulting in deficiency of the GALT enzyme.
This leads to abnormal accumulation of galactose-
related chemicals in various organs of the body
causes the signs and symptoms of Galactosemia..
Consequences –
Lack of transferase results accumulation of
galactose – phosphate in many location
,including liver ,spleen lens of the eye ,kideny
, heart muscle cerebral cortex and RBCs
, heart muscle cerebral cortex and RBCs
affect infant fail to development from birth
usually present with vomitting ,and diaharia
following milk ingesion .
3. Cystic fibrosis
Cystic fibrosis is a disorder that
damages your lungs, digestive tract
and other organs. It's an inherited
disease caused by a defective gene
disease caused by a defective gene
that can be passed from generation to
generation. Cystic fibrosis affects the
cells that produce mucus, sweat and
digestive juices.
Cystic fibrosis is a disorder of ion transport in epithelial
cells, which affects fluid secretion in exocrine glands
and the epithelial lining of the respiratory,
gastrointestinal and reproductive tracts. It is a genetic
disease caused by mutations in the Cystic Fibrosis
Transmembrane Regulator (CFTR) gene located on the
Transmembrane Regulator (CFTR) gene located on the
long arm of chromosome 7 and has usually an autosomal
recessive mode of transmission This protein functions as
a channel across the membrane of cells that produce
mucus, sweat, saliva, tears, and digestive enzymes..
Etiopathogenesis:
In normal duct epithelia, chloride is transported by
chloride channels is the plasma membrane.
The epithelial chloride channel protein is coded by CFTR
gene.
It is now recognized that CFTR regulates multiple
It is now recognized that CFTR regulates multiple
additional ion channels and cellular processes.
Mutations in the gene that produces the cystic fibrosis
transmembrane conductance regulator (CFTR) protein.
disrupt the normal production or functioning of the CFTR protein found
in the cells of the lungs and other parts of the body ...
Consequences:
The clinical features may appear at any time from
before birth to childhood or even in adolescence.
In most of the infants with cystic fibrosis, the abnormal
viscous secretions caused obstruction of organ passages,
These are responsible for the most of the clinical
These are responsible for the most of the clinical
features of this disorder like chronic lung disease,
secondary to recurrent infections, pancreatic
insufficiency ( is a condition which occurs when the
pancreas does not make enough of a specific enzyme the
body uses to digest food in the small intestine. ) ,
malnutrition, hepatic cirrhosis , intestinal obstruction.
Inborn Errors of Metablism.pdf

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Inborn Errors of Metablism.pdf

  • 1. GRACIOUS COLLEGE OF NURSING RAIPUR C.G Inborn Errors of Metabolism PRESENTED BY OM VERMA ASSISTANT PROFESSOR
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  • 9. Inborn errors of metabolism are rare genetic (inherited) disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts of food. down (metabolize) parts of food. According to S.S.Randhawa
  • 10. Inborn errors of metabolism are a heterogeneous group of disorders that may be inherited or may occur as the result of spontaneous mutations. These diseases involve failure of the metabolic pathways involved in either the break- pathways involved in either the break- down or storage of carbohydrates, fatty acids, and proteins. According to AND
  • 11. METABOLIC GENETIC DEFECT There are 3 metabolic genetic defect 1. Phenyl ketonuria 2. Galactosemia 3. Cystic fibrosis
  • 12. 1. Phenyl-ketonuria Phenylketonuria (PKU) is an inborn error of phenylalanine metabolism (commonly known as PKU) is an inherited disorder that known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid ) that is obtained through the diet.
  • 13. Etiopathogenesis Phenyla-lanine metabolism caused by the deficiency of phenylalanine hydroxylase. Deficiency of phenylalanine hydroxylase Deficiency of phenylalanine hydroxylase result in inability to convert Phenyla-lanine into tyrosine ( essential component for the production of several important brain chemicals called neurotransmitters, including epinephrine, norepinephrine, and dopamine.. )
  • 14. Phenyla-lanine ( amino acid ) accumulation of the blood HyperPhenyla-laninemia and tyrosine deficiency tyrosine required for synthesis of melanin and lead deficiency of melanin pigment. Excessive Phenyla-lanine is metabolized in toxicity Excessive Phenyla-lanine is metabolized in toxicity They caused brain damage and result mental retardation
  • 15. Galactosemia is a condition in which the body is unable to use (metabolize) the simple sugar galactose. It is an 2. Galactosemia the simple sugar galactose. It is an autosomal recessive disorder of galactose metabolism characterized by inability to convert galactose to glucose due lack of galactatose.
  • 16. Galactosemia occurs due to disruptions or changes (mutations) in the GALT galactose- 1- phosphate uridylyl-transferase. is a Protein Coding Gene Etiopathogenesis Resulting in deficiency of the GALT enzyme. This leads to abnormal accumulation of galactose- related chemicals in various organs of the body causes the signs and symptoms of Galactosemia..
  • 17. Consequences – Lack of transferase results accumulation of galactose – phosphate in many location ,including liver ,spleen lens of the eye ,kideny , heart muscle cerebral cortex and RBCs , heart muscle cerebral cortex and RBCs affect infant fail to development from birth usually present with vomitting ,and diaharia following milk ingesion .
  • 18. 3. Cystic fibrosis Cystic fibrosis is a disorder that damages your lungs, digestive tract and other organs. It's an inherited disease caused by a defective gene disease caused by a defective gene that can be passed from generation to generation. Cystic fibrosis affects the cells that produce mucus, sweat and digestive juices.
  • 19. Cystic fibrosis is a disorder of ion transport in epithelial cells, which affects fluid secretion in exocrine glands and the epithelial lining of the respiratory, gastrointestinal and reproductive tracts. It is a genetic disease caused by mutations in the Cystic Fibrosis Transmembrane Regulator (CFTR) gene located on the Transmembrane Regulator (CFTR) gene located on the long arm of chromosome 7 and has usually an autosomal recessive mode of transmission This protein functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes..
  • 20. Etiopathogenesis: In normal duct epithelia, chloride is transported by chloride channels is the plasma membrane. The epithelial chloride channel protein is coded by CFTR gene. It is now recognized that CFTR regulates multiple It is now recognized that CFTR regulates multiple additional ion channels and cellular processes. Mutations in the gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein. disrupt the normal production or functioning of the CFTR protein found in the cells of the lungs and other parts of the body ...
  • 21. Consequences: The clinical features may appear at any time from before birth to childhood or even in adolescence. In most of the infants with cystic fibrosis, the abnormal viscous secretions caused obstruction of organ passages, These are responsible for the most of the clinical These are responsible for the most of the clinical features of this disorder like chronic lung disease, secondary to recurrent infections, pancreatic insufficiency ( is a condition which occurs when the pancreas does not make enough of a specific enzyme the body uses to digest food in the small intestine. ) , malnutrition, hepatic cirrhosis , intestinal obstruction.