MAPLE SYRUP URINE

DISEASE (MSUD)
MSUD is a rare, autosomal recessive disorder in which there is a partial
or complete deficiency in a mitochondrial enzyme complex called
Branched-Chain Alpha-ketoacid dehydrogenase that oxidatively
decarboxylates leucine, isoleucine and valine.
 Causes Symptoms
• Mutation in specific genes • Vomiting
producing proteins that work • Lethargy
together as the branched-chain
alpha-keto acid dehydrogenase • Developmental Delay
complex. • Avoiding Food
• Deficiency of these proteins • Urine that smells like maple
prevents the normal breakdown syrup
of isoleucine, leucine and valine.
 Diagnosis

As with PKU, prenatal diagnosis and neonatal screening are available,

and most affected individuals are compound heterozygotes.
 Treatment
• Monitoring: Blood chemistry, specialized dipsticks may be used to test
the patient's urine.
• Toxin Removal: Exchange transfusion, Hemodialysis, Hemofiltration
• Diet Control: A diet with carefully controlled levels of amino acids
must be maintained in order to prevent neurological damage.
• Liver Transplantation: Liver Transplant is a treatment option that can
completely and permanently normalize metabolic function.
GLYCOGEN STORAGE
DISEASE (GSD)
GSD a rare condition that changes the way body uses and stores
glycogen, a form of sugar.
 Causes
• It is a genetic disease caused by
defects in enzymes or deficiency
of enzymes required for
glycogen degradation or more
rarely glycogen synthesis in
muscles and liver cells.
Symptoms
• Not growing fast enough
• Heat intolerance
• Bruising too easily
• An enlarged liver
• A swollen belly
• Low blood sugar (Hypoglycemia)
• Weak muscles
• Muscle pain and cramping during
exercise
 Diagnosis
• Liver functioning tests are performed. For example:
• ALT (Alanine transaminase) Test
• Liver Biopsy
• Micrography
 Treatment
• Treatment is dependent on the type of glycogen storage disease.
• GSD 1 is typically treated with frequent small meals of carbohydrates
and cornstarch called modified cornstarch therapy to prevent low
blood sugar.
• Other treatments may include allopurinol and human granulocyte
colony stimulating factor.