Inborn Errors in Metabolism

Inborn
Errors in
Metabolism
Basics
What is Metabolism ?
Total of all chemical processes which

occurs in living organism is called ‘Metabolism’.
 Metabolism = Anabolism + Catabolism
Process of formation is called anabolism

and process of break down is called catabolism.
Examples of Metabolic Reactions :-
Krebs cycle 
 Glycolysis
Meaning of Inborn error…
• The word ‘Inborn’ it self says, ‘from birth’.
• So, the error from the time of birth is called

inborn error, but actually these can be from
foetus.
• The reason behind inborn errors are mostly

muted genes in embryo/foetus.
Reason of Inborn errors in
metabolism
• The major reason of error in metabolism is
changes in enzymatic properties.
• Generally enzymes are kind of protein
molecules (macro molecules).
• I think we all know how proteins are formed
but then also
DNA  RNA  Protein {as per central dogma}

• As per central dogma protein formation is
related to DNA.
• So, it can also be possible that Changes in
protein structure and function can be
occurred by Gene mutation and genes are
made up of DNA.
• As we discussed, inborn errors occurs due to
gene mutation from foetus or embryo, so it
means inborn metabolic errors can be result
of mutation in gene from foetal state or from
embryo.
Classification of inborn errors
in metabolism
Types Examples
1. In case of amino acids Phenylketonurea, Alkaptonurea
2. In case of carbohydrates Galactosemia
3. In case of porphyrins Acute intermittent porphyrias
4. In case of purine/pyrimidine Lesch-Nyhan syndrome
5. In case of steroids Congenital adrenal hyperplasia
6. Mitochondrial Kearns – Sayre syndrome
malfunction/absence
7. Peroxisomal Zellweger syndrome
malfunction/absence
8. Disorders of lysosomes Lysosomal storage diseases
Phenylketonuria,
Alkaptonuria and Albinism
• These all disorders are related to amino acid
(specially tyrosine) metabolism.
Phenylketonuria :-
• It is an autosomal recessive genetic disease.
• Phenylketonuria occurs due to deficiency of enzyme
phenylalanine hydroxylase.
• As a result level of phenylalanine in serum and
urine becomes elevated.
• In absence of treatment, severe mental retardation
is the most significant consequence of it.
• Patient with this disease has very restricted food
diet, with controlled amount of phenylalanine. (you
can assume that Tarak Mehta may have this kind of
disease, so her wife Anjaliben take care for there
strict diet and stop them to eat sweets.)
• The food which contains high amount of
phenylalanine are soybeans, cheese, nuts, seeds,
beef and whole grains.
• The gene for this enzyme is located on chromosome
no. 12, section 12q22-24, it contains over 90 kbp
and generate an mRNA of 2.4 kb.
• Over 50 different mutations have been identfied in
PAH.
Alkaptonuria
• This amino acid related metabolic error occurs
because of deficiency of Homogentisic acid
dioxygenase.
• As a result level of homogentisic acid
(alkapton) increases in urine.
• Patient’s joints become black and may have
arthritis.
• Urine of such patients also turns black when
exposed to air.
Albinism
• Due to absence of enzyme tyrosinase,
formation of melanin is affected.
• Since, melanin is responsible for giving black
colour to our skin, the person with this
disorder are fully white in colour, so they looks
so much fair.
• The person with this deficiancy is called
albino, they are very sensitive to skin cancer
because melanin protects skin from UV light.
Galactosemia
• Galactosemia is autosomal recessive in born
error of carbohydrate metabolism.
• Because of deficiency of enzyme
galactose-1-phosphate uridyltransferase
• This enzyme is required convert galactose-1-
phosphate into glucose-1-phosphate.
• The gene for GALT (Galactose-1-phosphate
uridyltransferase) is located to chromosome
no. 9 (9p13), 3.9 kbp in size and generates an
mRNA of 1.3 kb.
• Over 30 mutant alleles have been described;
most are amino acids substitutions that leads
to 0% to 10% enzymatic activity as compared
to normal.
• OMIM no. is 230400

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Inborn

Total of all chemical processes which

 Metabolism = Anabolism + Catabolism

Process of formation is called anabolism

• So, the error from the time of birth is called

• The reason behind inborn errors are mostly

DNA  RNA  Protein {as per central dogma}

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