trigger 1: what is msud ?
Trigger 1 :What is maple syrup urine disease (MSUD) ?
It is a type of disease that is inherited in the family and it is a type of metabolic disorder in which the body could not break certain parts of the proteins building blocks (amino acid). Individual which have these disease will produce an urine that have a distinctive maple syrup odour.
So what causes this disease to occur? It is caused by a gene defect. So the genes that related to the diseases are BCKDHA, BCKDHB, DBT which are mutated. This mutation will causes an elimination or reducement for the function of the protein complex that prevents the normal breakdown of the amino acids.
The types of amino acids that the person with disease cannot break down are leucine, isoleucine and valine. So when these are not be able to break down, it will be build up in the blood and when this occur, high levels of these substance will causes it to accumulate and become toxic to brain and can also lead to the serious health problems related to the MSUD.
People inherit this disease because of an autosomal recessive pattern that means both copies of the genes have been mutated. The parents of an individual with this condition each of them carry one copy of the mutated gene but they do not show any of the symptoms of the condition.
Some of the symptoms of having the disease are coma, the individuals have feeding difficulties, keeps vomiting, urine that smells like a maple syrup, lethargy, seizures, and also keeps avoiding food. Thus, treatment that can be done are the individuals should eat a protein-free diet. For a long term treatment, the person should requires a special diet in which it includes a man-made infant formula with low levels of those three amino acids mentioned above.
This disease could be diagnosed earlier if the symptoms are recognised, It can be life threatened if untreated well
It is a type of disease that is inherited in the family and it is a type of metabolic disorder in which the body could not break certain parts of the proteins building blocks (amino acid). Individual which have these disease will produce an urine that have a distinctive maple syrup odour.
So what causes this disease to occur? It is caused by a gene defect. So the genes that related to the diseases are BCKDHA, BCKDHB, DBT which are mutated. This mutation will causes an elimination or reducement for the function of the protein complex that prevents the normal breakdown of the amino acids.
The types of amino acids that the person with disease cannot break down are leucine, isoleucine and valine. So when these are not be able to break down, it will be build up in the blood and when this occur, high levels of these substance will causes it to accumulate and become toxic to brain and can also lead to the serious health problems related to the MSUD.
People inherit this disease because of an autosomal recessive pattern that means both copies of the genes have been mutated. The parents of an individual with this condition each of them carry one copy of the mutated gene but they do not show any of the symptoms of the condition.
Some of the symptoms of having the disease are coma, the individuals have feeding difficulties, keeps vomiting, urine that smells like a maple syrup, lethargy, seizures, and also keeps avoiding food. Thus, treatment that can be done are the individuals should eat a protein-free diet. For a long term treatment, the person should requires a special diet in which it includes a man-made infant formula with low levels of those three amino acids mentioned above.
This disease could be diagnosed earlier if the symptoms are recognised, It can be life threatened if untreated well