AMINO ACIDS

• More than 300 amino acids occur in nature

• Only 20 of them are coded for by DNA in the cell
• Side chains ;
• Dictates the role an amino acid plays in a protein
• Essential amino acids cannot be produced by the
body and must be present in the diet and necessary
for normal body functions
• Non-essential amino acids can be produced by the
body and are therefore not required as part of the
diet
 Conditionally Essential amino acids

• Can be produced by the body, but at rates lower than

certain conditional requirements (e.g. During Pregnancy or
Infancy)– they are essential at certain times only
• Pregnants and Growing children need them in food
• Moderate or Severe illness and Digestion disorders
necessiate Supplementation of them
• Arginine, Asparagine, Glycine, Glutamine, Serine,
Proline,Tyrosine
 Goggle images

Private (PVT), the lowest Army rank

 The 21 st Amino acid
‘’Selenocysteine’’

• Synthesized from Serine and Selenium while Serine is

attached to transfer RNA
• Found in several proteins such as Glutathione peroxidase
• Glutathione peroxidase is one of the most important
Antioxidant enzymes
• In Protein structure;
• There are PEPTIDE BONDS between AMINO ACIDS
• Contain between 50 and 2000 amino acids
Purslane
 Glutathione
One of The Most Important Antioxidant

• Consists of 3 amino acids

• Tripeptide
• Glutamate + Cysteine + Glycine
 Simple Amino Acids

• Glycine ; The simplest amino acid

• Collagen ; The most abundant protein in our body
• In Collagen protein ; Every 3 rd of amino acid is Glycine
 Simple Amino Acids

• Alanine
• Alanine - Glucose Cycle between Muscle and Liver
• Primarily oxidized in Skeletal muscle, whereas the other
amino acids catabolized in Liver
 Hydroxyl Containing Amino Acids

• Hydroxyl group of Serine, Threonine and rarely, Tyrosine

can serve as an attachment site for Phosphate group
• Phosphorylation/ Dephosphorylation reactions are very
important in the regulation of enzyme activities in
Metabolism
Sulfur Containing Amino Acids
• The side chain of Cysteine contains Thiol= (-SH) group
• Thiol group is important component of the active site
of many enzymes
 Amino Acids With Amide Group

• Amide group of Asparagine can serve as an attachment

site for oligosaccharide chains in Glycoproteins
 Amino Acids With Amide Group

• Glutamine is an energy source for intestinal cells

Acidic Amino Acids
 MSG= Mono Sodium Glutamate
Food Additive ‘’Chinese Salt’’
• Flavoring agent
 www.pubmed.com
J Biomed Sci 2015.Monosodium glutamate-induced
oxidative kidney damage and possible mechanisms:
a mini-review
• Animal studies suggest that chronic Mono
Sodium Glutamate (MSG) intake induces
Kidney damage by oxidative stress
Basic Amino Acids
Aromatic Amino Acids
 Proline

• Collagen is rich in Proline

 Classification of Amino Acids
Based on Metabolism
• 1. Glucogenic ; Convertible to Glucose
• 2. Ketogenic; Convertible to Ketone bodies such
as Acetone
• 3. Both Glucogenic and Ketogenic
 Purely Ketogenic Amino Acids
• Leucine
• Lysine
Aminoacidemia = Blood Amino Acid
Aminoaciduria = Urine Amino Acid
 Inborn Errors of
Amino Acid Metabolism
• Commonly caused by mutant genes
• Generally result in abnormal proteins, most often enzymes
• Inherited defects may be expressed as a total loss of
enzyme activity or, more frequently, as a partial deficiency
in catalytic activity
• Without treatment;
• Harmful accumulation of metabolites can cause;
• Intellectual disability or
• Other developmental abnormalities
• More than 50 of these disorders have been
described
• Many are rare
• Constitute a very significant portion of pediatric
genetic diseases
• Phenylketonuria (PKU);
• An important disease of amino acid metabolism
• Relatively common
• Responds to dietary treatment
 Screening of Newborns for
• Some metabolic disorders is done by
• Tandem mass spectrometry
• Blood obtained from a heel prick
 Newborn Screening Tests for
Diagnosis of Metabolic Diseases
 Newborn Screening Tests
(Compulsory)
• TSH = Thyroid Stimulating Hormone
• MSUD= Maple Syrup Urine Disease
• Biotidinase
• PKU = Phenyl Keton Uria
If; Neonal TSH
Untreated babies IQ
• TSH = Thyroid Stimulating Hormone
 Newborn Screening Tests
(Compulsory)
• TSH = Thyroid Stimulating Hormone
• MSUD= Maple Syrup Urine Disease
• Biotidinase
• PKU = Phenyl Keton Uria
 Phenylketonuria
• The most common clinically
encountered inborn error of amino
acid metabolism (incidence 1:15,000)
• Caused by a deficiency of
Phenylalanine hydroxylase
• Phenylalanine can not be converted
to Tyrosine
• Characterized by accumulation of
Phenylalanine in blood
Lippincott Illustrated Rewiews Biochemistry
 Characteristics of classic PKU
• Phenylalanine is converted to;
• Phenyllactate, Phenylacetate, and
Phenylpyruvate;
• These metabolites give urine a
characteristic musty (“Mousey”) odor
• Disease acquired its name from the
presence of a Phenylpyruvate, a
phenylketone in the urine
Central nervous system symptoms of PKU
• Severe intellectual disability
• Developmental delay
• Microcephaly
• Seizures are characteristic findings in untreated PKU
• Patient with untreated PKU
• Typically shows symptoms of intellectual disability by
age 1 year
• Rarely achieves an intelligence quotient (IQ) greater
than 50
• These clinical manifestations are now rarely seen as a
result of neonatal screening programs
 Neonatal Screening and Diagnosis
• Early diagnosis of PKU is important
• Because PKU is treatable by dietary means
• Due to the lack of neonatal symptoms;
• Laboratory testing for elevated blood levels of
phenylalanine is mandatory for detection
• Infant with PKU frequently has normal blood levels of
phenylalanine at birth
• Because the mother clears increased blood phenylalanine
in her affected fetus through the placenta
• Normal levels of phenylalanine may persist until Newborn
is exposed to 24–48 hours of protein feeding
• Thus, Screening tests are typically done after this time to
avoid false negatives
• For newborns with a positive screening test;
• Diagnosis is confirmed through quantitative determination
of phenylalanine levels
• Because of buildup of Phenylalanine in breath,
urine and sweat; Baby smells MUSTY
• Phenyl alanine free diet
• If Untreated MENTAL RETARDATION
 Treatment
• Most natural protein contains phenylalanine, an essential
amino acid
• It is impossible to satisfy the body’s protein requirement
without exceeding the phenylalanine limit when ingesting
a normal diet
• Therefore, in PKU, blood phenylalanine level is maintained
close to the normal range by feeding synthetic amino acid
preparations free of phenylalanine
• Supplemented with some natural foods (such as fruits,
vegetables, and certain cereals) selected for their low
phenylalanine content
• The amount is adjusted according to the tolerance of the
individual as measured by blood phenylalanine levels
 Treatment
• The earlier treatment is started, the more completely
neurologic damage can be prevented
• Individuals who are appropriately treated can have normal
intelligence
• Treatment must begin during the first 7–10 days of life to
prevent cognitive impairment
• Because phenylalanine is an essential amino acid, overzealous
treatment that results in blood phenylalanine levels below
normal is avoided
• In patients with PKU, Tyrosine cannot be synthesized from
Phenylalanine
• Therefore, Tyrosine becomes an essential amino acid and must
be supplied in the diet
 Treatment
• Lifelong restriction of dietary phenylalanine is
recommended
• Individuals with PKU are advised to avoid Aspartame,
an artificial sweetener that contains phenylalanine
 Newborn Screening Tests
(Compulsory)
• TSH = Thyroid Stimulating Hormone
• MSUD= Maple Syrup Urine Disease
• Biotidinase
• PKU = Phenyl Keton Uria
MAPLE SYRUP TREE
 Maple Syrup Urine Disease
(MSUD)
• Rare (1:185,000), autosomal recessive
disorder
• Metabolic disorder of branched chain
amino acids (Leucine, Isoleucine, Valin)
• Reason; a partial or complete deficiency in
Branched Chain Ketoacid Dehydrogenase
 Maple Syrup Urine Disease
(MSUD)
• BCAAs and their corresponding α-keto acids
accumulate in the blood
• Causes a toxic effect that interferes with brain
functions

Goggle images
 Maple Syrup Urine Disease
(MSUD)
• Characterized by;
• Feeding problems
• Vomiting
• Ketoacidosis
• Changes in muscle tone
• Neurologic problems that can result in coma
(primarily due to the rise in Leucine)
• Maple syrup-like odor of the urine due to the rise in
Isoleucine
• If untreated, the disease is fatal
• If treatment is delayed, intellectual disability results
 MSUD

• Treated with a synthetic formula that is free of BCAAs

• Supplemented with limited amounts of Leucine,
Isoleucine, and Valine to allow for normal growth and
development without producing toxic levels
• Elevated leucine is the cause of the neurologic damage in
MSUD, and its level is carefully monitored
• Early diagnosis and lifelong dietary treatment is essential if
the child with MSUD is to develop normally
 Albinism
• A defect in Tyrosine metabolism results in a deficiency
in Melanin production
• Results in the partial or full absence of pigment from
the skin, hair, and eyes
• Results from an absent or defective Tyrosinase
• Affected individuals have vision defects and
photophobia (sunlight hurts their eyes)
• They are at increased risk for skin cancer
 Homocystinuria

• Characterized by high blood and urine levels of

Homocysteine
• Caused by deficiency of Cystathionine β-synthase
 Homocystinuria

• Cystathionine β- synthase deficiency exhibit;

• Dislocation of the lens (Ectopia lentis)
• Skeletal anomalies (Long limbs and fingers)
• Intellectual disability
• Increased risk for developing thrombi (Blood clots)
• Thrombosis is the major cause of early death in these
individuals
 Alkaptonuria
• Reason; Deficiency in Homogentisic acid
oxidase
• Results; Accumulation of Homogentisic acid
(HA), an intermediate in the degradative
pathway of Tyrosine
• 3 Characteristic symptoms:
• Homogentisic aciduria (Urine contains
elevated levels of HA, which is oxidized to
a dark pigment on standing)
• Large joint arthritis
• Deposition of black pigment (Ochronosis) in
cartilage and collagenous tissue