Treatment is never better than prevention!

In this segment, we will be exploring the common diagnostic tests available as well as some of the treatments that can be used to combat Maple Syrup Urine Disease(MSUD)

Let us review the available tests available :

1) Plasma Amino Acids test

It is a screening done for people to detect the composition of amino acids in the blood. The heel of the infant will be sterilized first, and then gets punctured by a sharp needle. The sample is then collected and sent to the lab for analysis by chromatography.

For MSUD, three different values have to be obtained. Should the values be higher than those mentioned below, it is highly likely that they have metabolic defects for the three amino acids.

Leucine :

• Children: 70 to 170

• Adults: 66 to 170

Isoleucine :

• Children: 37 to 140

• Adults: 42 to 100

Valine :

• Children: 160 to 350

• Adults: 150 to 310

2) Urine amino acid test

Very similar to the blood test, but this time round it involves collection of urine. It has to be sterile so it is quite complicated. The full article on urine sample collection is here. After sample collection, it will be sent to the lab for testing of amino acids using chromatography.

Similarly, the three amino acid values will be taken into account. If the values are higher than the norm, then it is conclusive that the patient may suffer from MSUD.

Isoleucine :

• Children: 3 to 15

• Adults: 4 to 23

Leucine :

• Children: 9 to 23

• Adults: 20 to 77

Valine :

• Children: 17 to 37

• Adults: 19 to 74

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There are treatments available and they do not require medication.

During periods when experiencing MSUD(intermittent), a special protein-free diet is required by the patient. Fluids, sugars and other nutrients may be administered through IV drips if necessary.

More severe cases may require peritoneal dialysis or hemodialysis to remove excess amino acids from the body.

Severe cases also require a strict diet containing low levels of Leucine, Isoleucine and Valine constructed by a dietitian and physician. They are required to stick to the diet permanently.

Such measures are important as high concentrations of the amino acids will cause neurological damage and mental retardation.

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