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1. IGNOU MSCDFSM
INBORN ERRORS OF METABOLISM

2. 1. All inborn errors are associated with protein molecule. Synthesis of proteins are genetically controlled .these
genetics are mutated at the time of inheritance .A mutation occur when DNA gene is damaged or changed the
message .
2. Gene is a segment of DNA chain that contain instruction for a complete protein .
3. A lot of information is passed from one generaton to other like colours of hairs ,eyes ,skin, behaviour etc .
4. Mendal was a monk who carried these experiment on garden peas and experiment was named as Medilian law
of inheritance .
5. Mendelian laws of inheritance holds good for animal species including human being .
6. Genetic engennering : it involves isolation and manipulation of DNA .where the defective portion of DNA
molecule is removed .the right sequence is inserted at this point to produce correct desired DNA .Molecules
containing both human and bacterial DNA sequences joined together have been produced.these are called
chimeric DNA.the hybrid DNA molecules is then inserted this method is called cloning the correct DNA
sequence is cleaved off from plasmid.
DISORDERS OF PROTEIN MOLECULES
Diseases are:
1. Alcaptonuria
2. Phenylketonuria
3. Tyrosinemia –Type I ,II
4 Neonatal Tyrosinemia
5 Albinism

3. ALCAPTONURIA :
It is very rare hereditary disorder of tyrosine .the urine in these disease on standing become darker in colour
may finally turn black .there is defect in enzyme homogentisate oxidase.in normal person tyrosine is
to homogenistic acid to maleylacetoacetic acid .further metabolism of homogenistic acid is prevented..this
intermediate compound accumulates blood .homogenistic acid is excreated in urine. Homogenistic acid in
on exposure to oxygen oxidized to coloured pigment. Accumulation of homogenesytic acid in cartiages
arthritis in older patients
PHENYLKETONURIA :
It is referred as PKU .,due to deficiency of enzyme phenylalanine hydroxylase.that is responsible for breakdown
of essential aa phenylalanine.in normal conditions enzyme phenylalanine hydroxylase convert phenylalnine
tyrosine that is then utilized by the body .since phenylalanine cannot hydroxylated to tyrosine ,it accumulates
is transaminated to phenylpyruvate that turn reduced or oxidized to form phenyllactate and phenylacetate
respectively. Much of phenylacetate is conjugated in liver with glutamine and excreated in urineas
phenylacetylglutamine.the accumulated metabolites cause damage to CNS resulting in acute neurological
symptoms.inborn errors of metabolism with neurological abnormalities are also called neuro metabolic
.accordingly half of phenyl ketonurics exhibit mild to marked microcephaly .bioterin is obligatory cofactor .any
metabolism will lead to PKU symptoms.
Nutitritional management involves phenylalanine restricted restricted diets.cost of importing is the limitation.
These are protein hydrolysates derived from casein or ox serum protein .

5. TYROSINEMIAS :
1.It is due to tyrosine defects in catabolism
2. It is of 3 types : tyrosinemia 1 , Tyrosinemia 2 and Neonatal tyrosinemia
3. Tyrosinemia 1:
Improper break down leads to abnormal accumulation of tyrosine and its metabolites in liver and resulting
severe liver disease and results in severe liver disease.it is also called hepatorenal tyrosinemia.
There is deficiency of fumaryl acetoacetate hydrolase enzyme.it convert fumaryl aceto acetic acid to
acid and acetoacetic acid and its conversion to succinyl acetone. There are different types of inborn illness
due to various deficiencies .
Disorders of lipid metabolism

6. DISORDERS OF CARBOHYDRATE METABOLISM

8. Kindly go through the tables very thoroughly .remember minute details and all the best. This was last chapter
of biochemistry. Please prepare well for exams ,like subscribe and share with those who needs help.
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