06 May, 2020
5 Min Read
Maple syrup urine disease (MSUD)
Maple syrup urine disease (MSUD) is a rare genetic disorder characterized by deficiency of certain enzymes (branched-chain alpha-keto acid dehydrogenase complex) required to break down (metabolize) the three branched-chain amino acids (BCAAs) [Leucine, Isoleucine and Valine] in the body.
The result of this metabolic failure is that all three BCAAs, along with their various byproducts, accumulate abnormally throughout the body.
In the classic, severe form of MSUD, the plasma concentrations of the BCAAs begin to rise within a few hours of birth. If untreated, symptoms begin to emerge, often within the first 24-48 hours of life.
Symptoms of MSUD
The “non-specific” symptoms are those of increasing neurological dysfunction and include lethargy, irritability and poor feeding, followed soon by focal neurological signs such as abnormal movements and increasing spasticity, and shortly thereafter, by convulsions and deepening coma.
If untreated, progressive brain damage is inevitable and death ensues usually within weeks or months. The finding that is unique to MSUD is the emergence of a characteristic odor, reminiscent of maple syrup that can most readily be detected in the urine and earwax and may be smelled within a day or two of birth.
The disorder can be successfully managed through a specialized diet. However, even with treatment, both affected children and adults patients with MSUD remain at high risk for developing episodes of acute illness (metabolic crises) often triggered by infection, injury, failure to eat (fasting) or even by psychological stress. During these episodes there is a rapid, sudden spike in amino acid levels necessitating immediate medical intervention.
Types of MSUD
Mission Indradhanush was launched in 2014 under the Ministry of Health and Family Welfare. 1. Between 2009 - 2013, only 1% coverage per year has increased. We have to make it to 5%. 2. Objectives of Mission Indradhanush: We have the aim of full coverage by 2020. Cover all those children who are either unvaccinated or are part
A Bill that could alter the Mediation landscape The background behind Mediation Bill: In General, Disputes Became part and parcel of Day-to-Day Life. Someone or the Other belonging to family or else not a part of the family would be fighting for something. These Disputes may be for Smaller or B
List of all Military Exercises of India 2021 Military Exercises of India with Neighbours Sampriti: India & Bangladesh Mitra Shakti: India & Sri Lanka Surya Kiran: India & Nepal Hand in Hand Exercise: India & China Ekuverin: India & Maldives Military Exercises of India with Other countries Maitree Exer
Consumer Protection (Jurisdiction of the District Commission, the State Commission and the National Commission) Rules, 2021 1) Pecuniary Jurisdiction The Consumer Protection Act, 2019 The Consumer Protection Act, 2019 promulgates a three-tier quasi-judicial mechanism for redressal of consumer disputes namely district commissions, state
The Swachh Bharat Mission - Urban (SBM-U), launched on 2nd October 2014 aims at making urban India free from open defecation and achieving 100% scientific management of municipal solid waste in 4,041 statutory towns in the country. The objectives of the mission are mentioned below: Elimination of open defecation Eradication of Manual S
Copyright© Aspire IAS Academy. All rights reserved. Powered by CLT Technologies & Edu-Publishers Private Limited.