Maple Syrup Urine Disease

Maple Syrup Urine Disease

Maple Syrup Urine Disease

It is caused due to an inborn error of metabolism.

MSUD is a group of inherited metabolic disorders that occurs due to three branched-chain amino acids. These are leucine, isoleucine, and valine in the normal process these three are metabolized to ketoacids then it decarboxylated into simple acids.

But in the case of maple syrup urine disorders, an oxidative decarboxylase in the white cells are missing.

Normally carboxylic group can not be flushed out hence it is stored in branched-chain ketoacids and its amino acid precursors.

And these branches chain ketoacids are it becomes acute neurotoxins maybe interfere with oxygen intake and production of ATP. Because of that progressive neurologic dysfunction occurs resultant urine becomes smelly and smells like burnt sugar syrup.

Hence the name of this disorder gets maple means sugar, Maple syrup urine disorder.

When to see these changes:-

The person with maple syrup urine diseases, seen normal at birth but when we fed them protein-rich foods, symptoms get appearing and

Babies get affected by these changes such as impairment in neurological movement can be found such as:-

 irregular respiration,

Poor sucking,

And intermittent periods of rigidity and flaccidity.

If protein load get extra then it developed the risk such as:-



Even death can occur.

But the only solution is that early disease diagnosis and treatment therapy can lead to normal growth and development.

How to diagnosis:-

by using ion-exchange chromatography for quantifying plasma isoleucine, leucine, and valine also with isoleucine, urinary branched chain of alpha-keto acids.

it is a successfully managing disorder, by a special diet, balance with three branched-chain ketoacid.

maple syrup urine diseases are mainly three of four types.p urine disease is these severities of these disorders depend upon the amount of that enzyme activity and it varies from patient to patient.

the treatment for maple syrup urine disease:-

is changing the appropriate diet with supportive and symptomatic treatment.

We can feed them by making special feeds such as meal containing without these three branched-chain amino acids.

But in some cases infants unable to take it orally hence by using gastrostomy during the intensive care unit of the neonatal phase.

The plasma concentration of these three amino acids must be maintained in the range of 40-90m mol. , for isoleucine, 80-800m mol. for leucine, and 200-425 mmol of valine.

For long-term treatment, a special diet with restriction of protein should be fallow.

Because of the prevention of storing BCCA in the blood.

Hence the special feeding formal are available for children, this formal freedom from the isoleucine, leucine, and valine amino acids.

Good thing is that they contain all the important nutrients, vitamins, and minerals that are needed for the growth development of those children.

Diet must free from this BCCA or low in BCCA foods such as sugar, fat, and oil. As well as low protein food products such as bread, biscuits, etc.

on the basis of the research hypothesis, increasing the level of thiamin, also increasing the level of good cofactor which helps to the good functioning level.


it rarely occurs metabolic syndrome, and if it is untreated, it leads to a dangerous situation such as res[iratory system failure and coma also, and even death will be occurring within a month or in two months.

other names of maple syrup urine disease areas:- branched-chain ketoacidosis, branched-chain ketonuria I, branched-chain alpha k to acid, BCKDC deficiency.

young people whos are suffering from maple syrup urine disease, they need special attention because they feel nervous and they think that, why they differ from the others. with the proper guidance of parents and a good counselor, they will be able to take care of them in a very well manner.

providing them proper knowledge regarding their diet, such as their diet should be BCAAs free with balancing other micronutrients.

so these all are the information about the Maple Syrup Urine Disease, follow these tips and manage your inherent Maple Syrup Urine Disease under the guidance of your personal dietitian

you can watch this video also:-

suggested readings:-

want to get more information regarding health and nutrition, follow us on:-



Leave a Comment

Your email address will not be published. Required fields are marked *