A newborn baby named Jason was exhibiting symptoms of seizures, irritability, poor feeding, and a sweet smell to his urine. Additional testing revealed he had Maple Syrup Urine Disease (MSUD), an inherited disorder caused by a deficiency of the enzyme branched-chain alpha-keto acid dehydrogenase complex. This prevents the breakdown of certain amino acids, causing them to accumulate to abnormal levels in the body. Treatment involves a strict protein-free diet to avoid metabolic crisis and potential neurological damage. The family was counseled about MSUD's autosomal recessive inheritance and the risks for future offspring.

1. Case Study
ASSO. PROF.:Dr. SURI SIR
By:AJAY SHUKLA & HARSHRAJIT
SINGH JUNEJA
1ST YEAR MBBS
SARASWATI MEDICAL COLLEGE

2. The Patient & Their Symptoms
JASON, a new born baby, was healthy as can be a few days
after his birth. However, after that he started showing
characteristics of seizures, irritability, failure to thrive, poor
suckling response, and little interest in feeding. The doctors
performed an examination that showed no sign of infection
and his X-rays came back normal. His parents notice a sweet
smell to Jacob’s urine, and become concerned because his
symptoms are eerily similar to those of an older brother that
died shortly after birth. The doctors decide that additional
testing should be done.

3. Additional Testing
• Urine Analysis
• Blood Analysis
• White Blood Cell Analysis
• Tandem Mass Spectrometry
• Molecular Testing (prenatal)
• Amino Acid Concentrations in Amniotic Fluid
(prenatal)

4. DIAGNOSIS
MAPLE SYRUP URINE DISEASE.[MSUD]

5. ORIGIN
MSUD was reported in 1954 by J.H.MENKES &
his colleagues.The family in menke’s case study had lost
four infants within the first 3 months of life to a
previously underscribed degenerative disorder of
nervous system.The urine of these childrens smelled like
maple syrup or burned sugar,hence the disease got its
name of maple syrup urine disease or MSUD.An
effective treatment however had to await further
biochemical analysis of the metabolic dysfunction
underlying the disease.In 1960 a researcher named
Dancis established that the metabolic block in MSUD is
caused by deficiency of enzyme required to metabolize
BCAA.

6. • Maple Syrup Urine
Disease
• MSUD is an inherited
disorder characterized by
the deficiency of
branched-chain alpha-
keto acid dehydrogenase
complex, an enzyme
required to breakdown
specific amino acids in
the body
• Since these amino acids
are not metabolized, they
along with various
byproducts, abnormally
accumulate in the cells
and fluids of the body
such as brain
tissue,blood.

7. Branched-Chain Amino Acids
• Leucine
• Isoleucine
• Valine

8. Maple Syrup Urine Disease
• MSUD is caused by a
deficiency of the BCKD
complex. This catalyzes
the decarboxylation of the
alpha-keto acids of
leucine, isoleucine, and
valine to their respective
branched-chain acyl-
CoAs.
• The BCKD complex has
three different catalytic
components (E1, E2, E3)
• Mutations in E1, E2, and
E3 cause MSUD

9. Types of MSUD
1.Classic MSUD
 Most common subtype of disease
 With less than 2% of BCKD enzyme
 Newborn shows symptom within 4 to 7 days of life
2. Intermediate MSUD:
 Rare subtype
 Slightly higher amount of BCKD enzyme in body[3% to 8%]
3. Intermittent MSUD:
 Second most common form of MSUD
 With enzyme activity b/w 8% to 15%
 May not show symptoms upto 12 to 24 months of age

10. 4.Thiamine-responsive MSUD:
Rare form of disease
In this the level of enzyme activity in child’s body is
increased by giving doses of thiamine hydrochloride.

11. Diagnosis
Before the onset of symptoms
• The earlier these children are diagnosed and treated, the less
risk of permanent damage.
• Newborn screening program is the most effective way to
diagnose MSUD.
After onset symptoms
• Maple syrup odour in the urine
• Ketonuria.
• It can be confirmed with an enzyme analysis.

12. Clinical Presentations
Initial symptoms are:
• Lethargy
• Poor appetite
• Weight loss
• Weak sucking ability
• Irritability
• High-pitched cry
• Irregular sleep patterns
• Maple sugar odour (sweet) in urine

13. Clinical Presentations
Signs of intermediate and thiamine-response are:
• Seizures
• Neurological deficiencies
• Developmental delays
• Feeding problems
• Poor growth
• Maple sugar odour in urine

14. Complications
• Complications can be severe and even fatal.
• Babies can experience metabolic crises.
Severe complications
• Lack of blood flow and swelling of the brain
• Seizures
• Metabolic acidosis
• Coma
• Severe neurological damage
 Intellectual disability
 Blindness

15. Treatment Options
• Protein-free diet
• Intravenous
administration of amino
acids that don’t contain
branched-chain amino
acids, combined with
glucose for extra calories
• Infants have a diet of
formula with low levels of
the amino acids leucine,
isoleucine, and valine
• In extreme cases MSUD
can be treated by liver
translantation.

16. Advice to the family of the child
• Careful control of the diet to insure the correct balance of the
amino acid levels is the best strategy for the optimal function
of persons with MSUD.
• MSUD is inherited in an autosomal recessive manner, so
explain for the family what can happen to their future
offspring.

17. ANY QUESTIONS?
Thanks for your
attention!!