IN

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by: Nadia
Roll no. 17
Submitted to: sir Zeeshan

Course code: ZOO-507

Jens Martensson 1
 nc h
Lau

Amino Acid
Metabolism
Phenylketonuria, Alkaptonuria,
Oculocutaneous albinism
Amino acid metabolism:
Introuction:

• Amino acid metabolism is an important

process that occurs within the human
body to assist in numerous biological
reactions. This article will cover the
role of glutamate, transamination
reactions, and various types of amino
acids such as glycogenic, ketogenic,
and mixed amino acids.

Jens Martensson 3
Important reactions in amino acid metabolism
Decarboxylation 
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Decarboxylation of amino acid results
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in the formation of an Amine by the
removal of the carboxyl group (-
COOH) from the amino acid. Due to
the removal of the organic acid group,
the byproduct moves up the pH scale
for being of alkaline nature. The
decarboxylase enzymes facilitate the
decarboxylation mechanism i.e.
removal of acidic groups. Deaminases,
on the other hand, remove the amino
groups to give out chemicals acidic in
nature. 

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Important reactions in amino acid metabolism
Transamination • Transamination is the transfer of an
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amine group from an amino acid to a
keto acid (amino acid without an amine
group), thus creating a new amino acid
and keto acid as shown below.
• Keto acids and/or carbon skeletons are
what remains after amino acids have
had their nitrogen group removed by
deamination or transamination.
Transamination is used to synthesize
nonessential amino acids.

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Important reactions in amino acid metabolism
Deamination
• The breakdown of amino acids releases nitrogen-
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Insert or Drag and containing amine groups (NH2) which can be toxic
to cells
• The liver removes these amine groups via the
process of deamination and converts them into
harmless products
• The amine group is first converted into ammonia
(which is toxic) and then converted into urea
• Urea is non-toxic and excreted from the body by
the kidneys (it is a component of urine)
• The remaining carbon skeleton is recycled to
produce compounds that can be oxidised for energy
• This includes the formation of glucose, ketone
bodies and acetyl CoA

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Important reactions in amino acid metabolism
Peptide bond formation
A peptide bond is formed by a 
age
Insert or Dra g and Drop your Im dehydration synthesis or reaction at a molecular
level.  This reaction is also known as a
condensation reaction which usually occurs
between amino acids.
As depicted in the figure given below, two
amino acids bond together to form a peptide
bond by the dehydration synthesis. During the
reaction, one of the amino acids gives a
carboxyl group to the reaction and loses a
hydroxyl group (hydrogen and oxygen).
The other amino acid loses hydrogen from the
NH2 group. The hydroxyl group is substituted
by nitrogen thus forming a peptide bond. 

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Amino acid metabolism:

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Data A Data B Data C

Jens Martensson 8
Defects in amino acid metabolism

In humans, there are many different genetic

defects in amino acid metabolism. Some
their intermediates accumulate in the
body causing defective development of
the nervous system that often results
in mental retardation.

Jens Martensson
Large image slide

lke to n ur i a
Pheny
(PKU)

FUNK
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Jens Martensson 10
Phenylketonuria
(PKU)
 Phenylketonuria (PKU) is a
rare genetic condition that Click icon to add pi
cture

causes an amino acid called

phenylalanine to build up in
the body. Amino acids are the
building blocks of protein.
Phenylalanine is found in all
proteins and some artificial
sweeteners.

Jens Martensson 11
,

Jens Martensson 12
,

Jens Martensson 13
Causes of phenylketonuria
A da
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Jens Martensson 14
Treatment options
• The main way to treat PKU is to eat a special
diet that limits foods containing phenylalanine.
Diet • They usually also need to consume a special
formula known as Lofenalac.

• The United States Food and Drug Administration

(FDA) recently approved sapropterin (Kuvan) for
Medication the treatment of PKU.
• Sapropterin helps lower phenylalanine levels.

Jens Martensson 15
Alkaptonuria:
Alkaptonuria, or black urine
disease, is a very rare
inherited disorder that
prevents the body fully
breaking down two protein
building blocks (amino acids)
called tyrosine and
phenylalanine.
It results in a build-up of a
chemical called homogentisic
acid in the body.

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 Symptoms:

Jens Martensson 17
Causes of Alkaptonuria

1, Alkaptonuria is
caused by a
mutation on
2.
your This means that
homogentisate both of your
1,2- parents must
dioxygenase have the gene
(HGD) gene. in order to pass
the condition
It’s an on to you.
autosomally
recessive
condition.

Jens Martensson 18
Treatment:
• No treatment modality has been
No treatment: unequivocally demonstrated to reduce
the complications of alkaptonuria. 

• Main treatment attempts have

Main treatment: focused on preventing ochronosis
through the reduction of
accumulating homogentisic acid.

• the herbicide nitisinone may be effective

Recomened treatment: in the treatment of alkaptonuria.

Jens Martensson 19
Oculocutaneous
albinism
Oculocutaneous
albinism
Oculocutaneous albinism (OCA) is a
group of rare inherited disorders
characterized by a reduction or
complete lack of melanin pigment in Click icon to add pi
cture
the skin, hair and eyes. These
conditions are caused by mutations in
specific genes that are necessary for
the production of melanin pigment in
specialized cells called melanocytes. 

Jens Martensson 21
. Abnormalit
y of
refraction

Cutaneous Absent skin

melanoma Symptoms: pigmentation

Basal cell
carcinom
a
Jens Martensson 22
 Causes:

All individuals inherit two

copies of most genes. The
number of copies of a gene
that need to have a disease-
causing variant affects the
way a disease is inherited.

Jens Martensson 23
Treatment:
At this time, no cure for OCA
exists, but there are a number
of measures that can be taken
to improve visual function and
to protect the skin from sun
damage.
Treatment may involve a team
approach including a primary
healthcare provider and doctors
specializing in eye care
(ophthalmologists), skin care (
dermatologists), and genetics. 

Treatment for OCA

focuses on
protecting the skin
from the sun and
correcting eye and
vision abnormalities.

Jens Martensson 24
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