Hypervalinemia cogenital amino acids metabolism disorder

1. L.M. College of Pharmacy
PHARM D.
Submitted to : DIVYA MAM
Subject : Medicinal biochemistry
Submitted by : JAINAM SHAH
Enrollment no. : 26
TOPIC : HYPERVALINEMIA

2. Valine
Synonyms : α-aminoisovaleric acid ,
2- Amino-3-methylbutanoic acid
Overview
• Valine is a branched-chain essential amino acid.
• It is synthesized in plants and microorganisms from pyruvic acid It is
therefore an essential amino acid in animals, and needs to be present in
the diet.
• Functions: The L-valine (Val) is needed for the synthesis of proteins ,
to stimulate muscle growth, prevent the breakdown of muscle tissue by
supplying the muscles with extra glucose,stress management, cognitive
function and the support of the immune system.
• Sources : Dairy products, cereal grains, mushrooms, peanuts and
soybeans.
 The daily requirement of L-valine is 10-20 milligrams per kilogram
of body weight for adults
4 / 7 / 2 0 2 1
B
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O
S
Y
N
T
H
E
S
I
S
O
F
V
A
L
I
N
E
H
T
T
P
S
:
/
/
Y
O
U
T
U
.
B
E
/
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P
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C
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R
2
N
G
_
S
2

3. Hypervalinemia
Synonyms
• Valinemia
• Valine aminotransferase
deficiency
• Valine Transaminase
Deficiency
What is Hypervalinemia?
• Hypervalinemia is a very rare inherited
autosomal recessive [ occurring once in
about 250,000 live birth ] although the gene
responsible for the condition is not yet
known.
• It is metabolic disorder characterized
by abnormally high levels of the amino
acid valine in the blood and urine.

4. Valinemia is caused by a
deficiency of the enzyme valine
transaminase, which is needed
for the breakdown
(metabolism) of valine in the
body.
A defect in valine
transamination was
demonstrated in peripheral
leukocytes from the patient
Causes of Valinemia

5. Genetical cause
• : Valinemia is a rare
congenital autosomal
recessive type disorder.
• This means the defective gene
responsible for the disorder is
located on an autosome, and
two copies of the defective
gene (one inherited from each
parent) are required in order to
be born with the disorder.
• The parents of an individual
with an autosomal recessive
disorder both carry one copy of
the defective gene, but usually
do not experience any signs or
symptoms of the disorder.

6. Hypervalinemia
has an
autosomal
recessive pattern
of inheritance.

7. Signs &
symptoms
• Lack of appetite
• Protein intolerance
• Metabolic acidosis An excessively acid
condition of the body fluids or
tissues.
• Frequent vomiting
• Abnormally low muscle tone
(hypotonia)
• Hyperkinesia [Muscle spasms]
• Excessive drowsiness sleepy
• Delayed mental and physical
development at the age of 24 months
• The patient started to vomit shortly
after birth and showed horizontal
nystagmus [Rapid involuntary
movements of the eyes.]

8. • Diagnosis depends on the
identification and measurement of
metabolic products that
accumulate in the blood and urine.
Sophisticated chromatographic
equipment is required to identify
these metabolites.
Diagnosis
Treatment
• Due to the rarity of Valinemia,
information about treatment in the
medical literature is very limited
• A diet low in valine introduced
during early infancy is thought to
improve symptoms of the condition
and lower valine concentrations
in the blood to normal levels.

9. Case
study Aminoacid analysis shows the increase levels of
valine in plasma and urine, but no increase in
leucine and isoleucine. The activity of valine
transaminase in leukocytes is low, but the
transaminase activities of leucine and
isoleucine is normal.
This suggests that boy was suffering from
hypervalinemia.

10. References
• https://www.dovemed.com/diseases-
conditions/valinemia/
• https://rarediseases.org/rare-diseases/valinemia/
• https://link.springer.com/
• https://en.wikipedia.org/wiki/Hypervalinemia

11. Be curious and
keep learning
new.
~ jainam shah
Thank you