MSUD or maple syrup urine disease is a condition that has the potential to cause grave consequences due the manner in which it impinges on the body’s capacity of breaking down three kinds of amino acids namely leucine, isoleucine and valine. The three amino acids when not employed for building protein go through the process of recycling, breaking down and utilised for energy. BCKD or branched-chain alpha-ketoacid dehydrogenase is the team formed by the unison of six proteins that generally break down the three amino acids.
Individuals having MSUD possess a mutation that leads to a paucity of one of the six proteins which constitute the BCKD complex. Hence, their bodies are incapable of breaking down the three amino acids present in their blood stream leading to brisk deterioration of brain cells and fatality in case not treated.
Faults in one of the 6 subunits which constitute the BCKD protein complex could lead to MSUD surfacing. The prevailing flaw occurs due to a mutation in a gene present on chromosome number 19 which sets the alpha sub-element of the BCKD complex – BCKDHA.
MSUD is an autosomally recessive heritable condition wherein an infant would require inheriting a flawed reproduction of the gene from both the parents in order to get MSUD. In case both mother and father are carrying the MSUD gene, then all their kids would bear a twenty-five percent likelihood of developing the disorder and a fifty percent likelihood of being carriers of this disorder.
Symptoms of MSUD:
MSUD is present in a characteristic type and numerous less prevalent types. Each type appears to vary in how severe it is and its typical traits. Yet, all sub forms of the disorder could be due to mutations in any one of the six genes employed for building the BCKD protein complex.
- A child having this disorder could seem normal subsequent to delivery. However, in 3-4 days time, the symptoms start appearing which comprise of diminished craving for foods, feeling fuzzy and sweet odour urine. The typical odour is the consequence of high levels of amino acids present in the urine due to which the disorder derived its name.
- In case not treated, the situation generally deteriorates. The child would undergo seizure attacks, enter a state of coma and death could occur in the initial couple of months of its life.
Diagnosis & Tests:
In certain states, all the infants in a span of a day’s time after their delivery undergo screening for MSUD. Blood sample is drawn from the child’s heel for analysis of elevated levels of leucine.
Treatment of MSUD:
- Treatment generally comprises of dietetic curbing of the three amino acids namely, leucine, isoleucine and valine which has to be commenced quite soon for averting damage to the brain.
- Infants having the disorder are given a special fortified formulation that has no presence of the three amino acids.
- Such children when they become adults have to be watchful of their dietetic intake for life long and steer clear from meat products, eggs and nuts.
- In case elevated levels of the 3 amino acids are detected in the person, then intravenous administration of a solution could assist the body is using up the three amino acids for synthesising protein.
- Gene therapy additionally appears to be the imminent cure for those having MSUD wherein substitution of the mutated gene with a normal replica facilitates the cells in generating a efficient BCKD protein complex and for breaking down the excessive amino acids.
MSUD is rarely found with one among 1, 80, 000 newly born having MSUD, though in certain populaces it is more prevalent.