MAPLE SYRUP URINE DISEASE (MSUD)
Prevalence of MSUD in India:
Maple syrup urine disease affects an estimated 1 in 185,000 infants worldwide. The disorder occurs much more frequently in the Old Order Mennonite population, with an estimated incidence of about 1 in 380 newborns. With increasing awareness of newborn screening in India, detection of MSUD has strengthened.
Maple Syrup Urine Disorder Definition:
Three branched-chain amino acids (leucine, isoleucine, and valine) are not metabolized due to an enzyme defect. They build up in the blood leading to excretion in the urine. Presence of the branched chain amino acid in the urine results in a distinctive maple syrup odour which gave the name Maple syrup urine disorder or MSUD.
Maple Syrup Urine Disorder Causes:
People with an MSUD condition cannot break down the amino acids leucine, isoleucine, and valine. This leads to a build-up of these chemicals in the blood. Deficiency of pyruvate dehydrogenase and α-ketoglutarate dehydrogenase causes MSUD, named after the sweet odour of maple syrup found in body fluids, especially urine.
Maple Syrup Urine Disorder Symptoms:
Most infants with classic MSUD show subtle emerging symptoms within 2-3 days; these include poor feeding at bottle or breast and increasing lethargy and irritability.
Maple Syrup Urine Disorder Test:
MSUD is usually confirmed by amino acid analysis showing marked elevation in plasma levels of leucine, isoleucine and valine and depression of alanine.
TMS being the primary test should always be backed with a GC-MS (Gas chromatography mass spectrometry) test to reconfirm the diagnosis. GC-MS is gold standard technology for confirming MSUD disorder.
When these 3-branched chain amino acids from the diet- (Isoleucine, Leucine and Valine) exceeds the limit in the blood, it floods the blood-brain barrier and can cause cognitive delay, neuropathy and delayed growth-development milestones.
When their levels are managed, however, all these complications can be avoided. MSUD once diagnosed requires a BCAA-free diet treatment; which facilitates normal physical and mental development. However, MSUD patients do require a small amount of BCAA’s, because these amino acids are essential for growth and development.
MSUD Diet in India:
MSUD patients must remain on a protein-restrictive diet that limits the amount of branched-chain amino acids they take in. Protein-restriction must start as soon as possible, after birth to promote proper growth and development. Amino acid based formulae specialized nutrition formula are available that provide all the nutrients necessary for proper growth and development, but lack leucine, isoleucine and valine. Pristine Organics offers BCAA free diets at 15% and 48% Protein levels depending on the patients’ needs in India. The optimum amount of Pristine Balance Metanutrition MSUD diet is calculated based on the child’s age and body weight and is constantly adapted to his or her needs.
Nutrition therapy plays an essential role in restoring and maintaining metabolic homeostasis in MSUD. The goals are to: closely monitor biochemical and clinical status; prevent catabolism and the accumulation of BCAA. One must provide adequate BCAA-free protein, energy, fluid, and valine and isoleucine to promote anabolism for growth and development. When the patient is metabolically stable, leucine requirements can be met from intact protein.
Providing education and support for the family is the key to a successful long range of therapy. Effective treatment is best achieved by a team of specialists such as your Physician, Nutritionist, Geneticist, Neurologist, and Psychologist.
A healthy MSUD life expectancy can be foreseen with a wholesome approach including a watchful diet, medical support and optimal nutrient supplement.