Review : Maple Syrup Urine Disease : A Rare Inherted Disorder of Amino Acid Metabolism

Pratham Rohit; Sneha Dey; Tarun Tank

doi:10.36948/ijfmr.2024.v06i04.26452

Review : Maple Syrup Urine Disease : A Rare Inherted Disorder of Amino Acid Metabolism

Author(s)	Pratham Rohit, Sneha Dey, Tarun Tank
Country	India
Abstract	Maple syrup urine disease is a rare and serious condition in which the amino acid metabolism is impaired. Mostly it is inherited in an autosomal recessive pattern in neonates from birth itself. Normally our body breakdowns proteins into amino acid and further amino acids are broken down and removed from our body. but in this disease body loses it’s ability to breakdown amino acids causing harmful buildup of substances in blood and urine. It can cause life threatening cerebral oedema and dysmyelination in affected individuals. It is generally caused by the deficiency of enzyme complex (Branched chain alpha keto acid dehydrogenase(BCKDHA)) .this particular enzyme complex is necessary to breakdown the three branched chain amino acids(BCCA) leucine, isoleucine and valine. this results in the accumulation of all three amino acids in body producing toxic effects. The common symptoms of this disease in neonates includes: anorexia, sweet smell in the urine, irritability, weight loss. In classic MSUD neonates are even born asymptomatic but delay in treatment may lead to worsening of symptoms in their later stage of life. The toxic effects are due to accumulation of branched chain ketoacids(BCKAs)causing severe ketoacidosis and harmful effects of leucine on brain. however, this disease can be managed by a restricted diet containing low protein so that the three BCCAs are controlled to some extent and through continuous metabolic monitoring. Newborn screening for MSUD is also ver common now a days for diagnosis of MSUD in newborns.
Keywords	MSUD- maple syrup urine disease BCKDHA-branched chain keto acid dehydrogenase E1 subunit alpha BCCA-branched-chain amino acids BCKA-branched-chain alpha-keto acid dehydrogenase BCKAD-branched-chain α-ketoacid dehydrogenase
Field	Medical / Pharmacy
Published In	Volume 6, Issue 4, July-August 2024
Published On	2024-08-23
Cite This	Review : Maple Syrup Urine Disease : A Rare Inherted Disorder of Amino Acid Metabolism - Pratham Rohit, Sneha Dey, Tarun Tank - IJFMR Volume 6, Issue 4, July-August 2024. DOI 10.36948/ijfmr.2024.v06i04.26452
DOI	https://doi.org/10.36948/ijfmr.2024.v06i04.26452
Short DOI	https://doi.org/gt8g5d

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Review : Maple Syrup Urine Disease : A Rare Inherted Disorder of Amino Acid Metabolism

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