Maple syrup urine disease (msud)

Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants' urine.

1. Maple Syrup Urine Disease (MSUD) Dr. V. MAGENDIRA MANI., M.Sc., M.Phil., Ph.D.,TNSET Assistant Professor of Biochemistry Islamiah College (Autonomous), Vaniyambadi [email protected] ; 9486000227

2. Maple syrup urine disease (MSUD) is an inborn error of the branched-chain keto acid dehydrogenase (BCKDH) enzyme complex required for the catabolism of the branched-chain amino acids (BCAA) leucine, valine, and isoleucine

3. Rare metabolic disorder. Build up of certain amino acids in the blood and urine that make the urine smell like maple syrup because the sufferer can not or only partially break down the hazardous amino acids

4. The mutant genes are BCKDHA (19 th Chromosome), BCKDHB (6 th Chromosome), DBT (1 st Chromosome), and DLD (7 th Chromosome) Branched Chain Keto Acid Dehydrogenase E1 Subunit Alpha Branched Chain Keto Acid Dehydrogenase E1 Subunit Beta Dihydrolipoamide Branched Chain Transacylase E2 Dihydrolipoamide Dehydrogenase

5. 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 Mutations in this complex leads to MSUD

6. Types of MSUD 1 Classic MSUD 2 Intermittent MSUD 3 Intermediate MSUD 4 Thiamine-responsive MSUD

7. Classic neonatal form

8. Intermediate Form

9. Intermittent Form

10. Thiamine-Responsive Form

11. Epidemiology Incidence is approximately 1 in 185,000 infants worldwide. Higher incidence amongst children from consanguineous relationships. The rate increases to 1:176 in inbred populations, like the Mennonites (single gene mutation). MSUD occurs at the same rate in males and females

12. Inheritance Autosomal recessive Develops from inheriting a mutated gene from each parent both parents must be carriers for the child to get MSUD. In this case, there is a 25% chance each child has this disorder.

13. Initial symptoms Lethargy- lack of energy Poor appetite Weight loss Weak sucking ability Irritability High-pitched cry Irregular sleep patterns Maple sugar odor in sweat and urine poor feeding vomitin g m ental health problems physical retardation mental retardation sweet odor, much like burned sugar

14. diarrhea irritability unusual breathing staggering hallucinations slurred speech IF untreated, death

15. Signs of intermediate and thiamine-response Seizures - sudden, uncontrolled electrical disturbance in the brain Neurological deficiencies Developmental delays Feeding problems Poor growth Maple sugar odor in sweat and urine

16. ¨ Suspect of MSUD results from the characteristic odor of maple syrup in the urine ¨ Confirmed diagnosis with abnormal amounts of keto acids and amino acids in blood and urine ¨ Serum alanine levels may also be depressed It can be confirmed with an enzyme analysis Diagnosis

17. Treatment It must be started as soon as possible. Involves a complex approach to maintain metabolic control. A special, carefully controlled diet is the focus of daily treatment. Synthetic food that strictly controls the Amino Acids leucine, isoleucine and valine.

18. Careful monitoring of protein intake. Infant will be given an MSUD formula such as Enfamil or Similac. A liver transplant is an optional treatment. In the past, dialysis was used to cleanse the body. This is no longer used. Genetic counseling recommended for family members

19. With strict dietary compliance and good medical care, children with MSUD can, and do, lead normal lives. Therapy must be started at the earliest possible age to achieve the best possible outcome. There always remains the risk of brain injury during extended times of elevated leucine levels. Usually fatal within one month if left untreated.

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