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MAPLE SYRUP URINE
DISEASE
It’s Mechanism and
Management
Presented by,
Pavithra B R
BSc Microbiology
INTRODUCTION
MSUD is a Genetic Metabolic Disorder
Inherited from Parents
Urine
People with this condition has the odour of
maple syrup or burnt sugar in their urine.
MAPLE SYRUP URINE DISEASE
Leucine Isoleucine Valine
2-ketoisocaproate 2-keto-3-methylvalerate 2-ketoisovalerate
Branched Chain α-ketoacid Dehydrogenase (BCKD)
Deficiency of an enzyme complex
The body cannot properly breakdown certain part of protein building blocks. MSUD is characterized by
deficiency of an enzyme complex (branched chain alpha keto acid dehydrogenase) that is required to
breakdown the three branched chain amino acids (BCAA's) leucine, isoleucine and valine in the body. The
result of this metabolic failure is that all three BCAA's, along with a number of their toxic by-products, build
up in the body and all accumulate abnormally.
MAPLE SYRUP URINE DISEASE
Distribution
• MSUD is very rare.
• It occurs in about 1 in 185,000 births
worldwide.
• Small gene pool.
• When cousins and other close
relatives have children together.
• About 2,000 people in the United
States live with MSUD.
• It affects males and females equally.
SYMPTOMS
MAPLE SYRUP URINE DISEASE
Symptoms
Urine smell like
Maple Syrup
Poor Feeding Vomiting Weight Loss
The symptoms and severity of MSUD varies greatly from patient to
patient and largely depends upon the amount of residual enzyme activity.
MAPLE SYRUP URINE DISEASE
Symptoms
• Irregular sleep pattern
• Breathing difficulties
• Near-sightedness
• Flush around the cheeks
• Long limbs
If untreated, MSUD can lead to coma
or death.
MAPLE SYRUP URINE DISEASE
Types
Classic
Classic maple syrup urine
disease is the most severe
type of MSUD. It is also
the most common.
Symptoms usually
develop within the first
three days of birth.
Intermediate
This type of MSUD is less
severe than classic MSUD.
Symptoms typically
appear in children between
the ages of 5 months and 7
years.
Intermittent
Children with intermittent
MSUD develop as
expected until an infection
or period of stress cause
symptoms to appear.
People with intermittent
MSUD can usually tolerate
higher levels of the three
amino acids than people
with classic MSUD.
Thiamine-
responsive
This type of MSUD
responds to treatment using
high doses of vitamin B1
(thiamine) along with a
restricted diet.
With treatment, people
with thiamine-responsive
MSUD have higher
tolerance for the three
amino acids.
MECHANISM
Valine Isoleucine Leucine
α-ketoacids
Step 1
The first step in a
branched amino acid
metabolism involves the
enzyme branched chain
amino transferase. This
enzyme converts the three
branched chain amino
acids valine, isoleucine
and leucine into α-
ketoisovalerate, α-keto-β-
methylvalerate and α-
ketoisocaproate. So, these
three are known as α-keto
acids.
Step 2
Branched Chain Ketoacid Dehydrogenase
(BCKD)
Irreversible step
Once we have the three alpha keto acids, they can be acted on into the second
step by the enzyme branched chain alpha-ketoacid dehydrogenase to produce
a variety of metabolites like Propionyl CoA, Acetyl CoA and Isovaleryl CoA.
This step is an irreversible step. These metabolites can be further processed into
other metabolites that can be used in the TCA cycle.
Now, what happens in maple syrup urine disease is that the enzyme branched
chain alpha-ketoacid dehydrogenase is dysfunctional. So, what happens is we
can’t actually process the alpha keto acids or the branching amino acids any
further. So, we get an increase in concentration of valine, isoleucine and leucine
along with the keto acids themselves.
Maple Syrup Urine disease Mechanism
MANAGEMENT
DIET
Whole
Protein
Restricted
Diet
Special
Metabolic
Formula
TOO LITTLE TOO MUCH
BCAA INTAKE
LEUCINE
LEUCINE
LEUCINE
LEUCINE
LEUCINE
LEUCINE
Isoleucine
Isoleucine
Isoleucine
Isoleucine
Isoleucine
Isoleucine
Isoleucine
VALINE
VALINE
VALINE
VALINE
VALINE
VALINE
Small amounts of breast milk or standard
instant formula
Avoid foods high in protein
Dietitian will help determine diet routine
Your clinic will teach you how to
track and limit BCAA
• Does not contain BCAA
• Provides necessary nutrients
• MSUD Anamix® Early Years
• DHA for Brain and Eye
Development
• Prebiotics to support immune
and digestive health
Special Metabolic Formula
Laboratory
CONCLUSION
PREVENTION OF MSUD
Genetic
Counselling
PREVENTION OF MSUD
Genetic
Testing
PREVENTION OF MSUD
DNA testing
in a foetus
before birth
REFERENCE
Websites
• https://my.clevelandclinic.org/health/diseases/21168-maple-syrup-urine-disease
• https://www.epainassist.com/metabolic-disorders/maple-syrup-urine-disease-or-msud
• https://rarediseases.org/rare-diseases/maple-syrup-urine-
disease/#:~:text=Maple%20syrup%20urine%20disease%20(MSUD,and%20valine%2C%20in%20t
he%20body.
YouTube
• Nutricia Metabolics - https://www.youtube.com/watch?v=DkAVNQBK6uI&t=333s
• JJ Medicine - https://www.youtube.com/watch?v=MFDPRNNSikw&t=201s
THANK YOU

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Maple Syrup Urine Disease

  • 1. MAPLE SYRUP URINE DISEASE It’s Mechanism and Management Presented by, Pavithra B R BSc Microbiology
  • 3. MSUD is a Genetic Metabolic Disorder Inherited from Parents Urine People with this condition has the odour of maple syrup or burnt sugar in their urine.
  • 4. MAPLE SYRUP URINE DISEASE Leucine Isoleucine Valine 2-ketoisocaproate 2-keto-3-methylvalerate 2-ketoisovalerate Branched Chain α-ketoacid Dehydrogenase (BCKD) Deficiency of an enzyme complex The body cannot properly breakdown certain part of protein building blocks. MSUD is characterized by deficiency of an enzyme complex (branched chain alpha keto acid dehydrogenase) that is required to breakdown the three branched chain amino acids (BCAA's) leucine, isoleucine and valine in the body. The result of this metabolic failure is that all three BCAA's, along with a number of their toxic by-products, build up in the body and all accumulate abnormally.
  • 5. MAPLE SYRUP URINE DISEASE Distribution • MSUD is very rare. • It occurs in about 1 in 185,000 births worldwide. • Small gene pool. • When cousins and other close relatives have children together. • About 2,000 people in the United States live with MSUD. • It affects males and females equally.
  • 7. MAPLE SYRUP URINE DISEASE Symptoms Urine smell like Maple Syrup Poor Feeding Vomiting Weight Loss The symptoms and severity of MSUD varies greatly from patient to patient and largely depends upon the amount of residual enzyme activity.
  • 8. MAPLE SYRUP URINE DISEASE Symptoms • Irregular sleep pattern • Breathing difficulties • Near-sightedness • Flush around the cheeks • Long limbs If untreated, MSUD can lead to coma or death.
  • 9. MAPLE SYRUP URINE DISEASE Types Classic Classic maple syrup urine disease is the most severe type of MSUD. It is also the most common. Symptoms usually develop within the first three days of birth. Intermediate This type of MSUD is less severe than classic MSUD. Symptoms typically appear in children between the ages of 5 months and 7 years. Intermittent Children with intermittent MSUD develop as expected until an infection or period of stress cause symptoms to appear. People with intermittent MSUD can usually tolerate higher levels of the three amino acids than people with classic MSUD. Thiamine- responsive This type of MSUD responds to treatment using high doses of vitamin B1 (thiamine) along with a restricted diet. With treatment, people with thiamine-responsive MSUD have higher tolerance for the three amino acids.
  • 11. Valine Isoleucine Leucine α-ketoacids Step 1 The first step in a branched amino acid metabolism involves the enzyme branched chain amino transferase. This enzyme converts the three branched chain amino acids valine, isoleucine and leucine into α- ketoisovalerate, α-keto-β- methylvalerate and α- ketoisocaproate. So, these three are known as α-keto acids.
  • 12. Step 2 Branched Chain Ketoacid Dehydrogenase (BCKD) Irreversible step
  • 13. Once we have the three alpha keto acids, they can be acted on into the second step by the enzyme branched chain alpha-ketoacid dehydrogenase to produce a variety of metabolites like Propionyl CoA, Acetyl CoA and Isovaleryl CoA. This step is an irreversible step. These metabolites can be further processed into other metabolites that can be used in the TCA cycle. Now, what happens in maple syrup urine disease is that the enzyme branched chain alpha-ketoacid dehydrogenase is dysfunctional. So, what happens is we can’t actually process the alpha keto acids or the branching amino acids any further. So, we get an increase in concentration of valine, isoleucine and leucine along with the keto acids themselves. Maple Syrup Urine disease Mechanism
  • 16. TOO LITTLE TOO MUCH BCAA INTAKE LEUCINE LEUCINE LEUCINE LEUCINE LEUCINE LEUCINE Isoleucine Isoleucine Isoleucine Isoleucine Isoleucine Isoleucine Isoleucine VALINE VALINE VALINE VALINE VALINE VALINE
  • 17. Small amounts of breast milk or standard instant formula Avoid foods high in protein Dietitian will help determine diet routine Your clinic will teach you how to track and limit BCAA
  • 18. • Does not contain BCAA • Provides necessary nutrients • MSUD Anamix® Early Years • DHA for Brain and Eye Development • Prebiotics to support immune and digestive health Special Metabolic Formula
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  • 25. PREVENTION OF MSUD DNA testing in a foetus before birth
  • 26. REFERENCE Websites • https://my.clevelandclinic.org/health/diseases/21168-maple-syrup-urine-disease • https://www.epainassist.com/metabolic-disorders/maple-syrup-urine-disease-or-msud • https://rarediseases.org/rare-diseases/maple-syrup-urine- disease/#:~:text=Maple%20syrup%20urine%20disease%20(MSUD,and%20valine%2C%20in%20t he%20body. YouTube • Nutricia Metabolics - https://www.youtube.com/watch?v=DkAVNQBK6uI&t=333s • JJ Medicine - https://www.youtube.com/watch?v=MFDPRNNSikw&t=201s