ARTICLE DESCRIPTION: 

Agniv Modak & Shayari Dutta, Maple syrup urine disease: nowadays a problem in human civilization, ASIO Journal of Pharmaceutical & Herbal Medicines Research (ASIO-JPHMR), 2021, 7(2): 16-23.

Affiliation:

School of Pharmacy, Techno India University, Salt Lake City, Sector V, EM-4, Kolkata-700091, West Bengal, India.

ARTICLE TYPE: REVIEW

DOI : 10.2016-19146535/ ; DOI Link :: https://doi-ds.org/doilink/08.2021-77919662/ASIO JPHMR/ 10.2016-19146535/V7/I2/459

Abstract:

Maple syrup urine disease (MSUD) is a rare, inherited inborn error of metabolism caused by defects in the branched-chain α-keto acid dehydrogenase complex metabolic disorder. This results in elevations of the branched-chain amino acids (BCAAs) in plasma, α-ketoacids in urine, and production of the pathognomonic disease marker, alloisoleucine. This disease prevents the body from breaking down certain amino acids and these amino acids are what remain after the body digests protein from the food we eat. Special enzymes process amino acids so they can be used to maintain all of our body function. MSUD varies in brutality and the clinical spectrum is quite broad with five recognized clinical variants that have no known association with genotype. In MSUD, the body lacks an enzyme called BCKDC (branched-chain alpha-keto acid dehydrogenase complex). The BCKDC enzyme processes three important amino acids: leucine, isoleucine, and valine, also called BCAAs (branched-chain amino acids). This branched chain amino acids are found in foods rich in protein as for example meat, eggs, and milk. Untreated MSUD can cause significant physical and neurological problems. The classic presentation occurs in the neonatal period with developmental delay, failure to thrive, feeding difficulties, and maple syrup odor in the cerumen and urine, and can lead to irreversible neurological complications, including stereotypical movements, metabolic decomposition, and death if left untreated. Treatment of this terrible disease consists of dietary restriction of BCAAs and close metabolic monitoring. This article involves its presentation, screening and clinical diagnosis, treatment, and other relevant aspects pertaining to the care of patients.

Keywords: Maple syrup urine disease, BCKDC, alloisoleucine, BCAAs.

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