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Diagnosis of MSUD (Maple Syrup Urine Disease ) cant be made alone on a single sign or symptom.

Classic maple syrup urine disease (MSUD) is the most common form, with symptoms developing in neonates aged 4-7 days, depending on feeding regimen. Breastfeeding may delay onset of symptoms to the second week of life. The initial symptoms typically include poor feeding, vomiting, poor weight gain, and increasing lethargy. In cases of non-classic MSUD, onset may be later and symptoms may vary.

Unless tested , the symptoms which
you have described can be due to a number of causes,
please fix an appointment with your doctor so that
a physical exam is performed after a
complete history and the necessary
investigations are done to look for the cause.


Plasma amino acids should be evaluated to assess the elevation of branched-chain amino acids and to detect alloisoleucine. The detection of alloisoleucine is diagnostic for maple syrup urine disease (MSUD).
Newborn screening for MSUD is performed with tandem mass spectrometry
Immediate treatment should follow the identification of affected newborn infants

Maple syrup urine disease (MSUD) is an aminoacidopathy secondary to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration in untreated infants. Early diagnosis and dietary intervention prevent complications and may allow for normal intellectual development. Consequently, MSUD has been added to many newborn screening programs, and preliminary results indicate that asymptomatic newborns with MSUD have a better outcome compared with infants who are diagnosed after they become symptomatic.

The 2 main aspects to the treatment of maple syrup urine disease (MSUD) are long-term management and the treatment of episodes of acute metabolic de compensation. The mainstay in the treatment of MSUD is dietary restriction of branched-chain amino acids.

Stop intake of branched-chain amino acids but resume intake as soon as plasma branched-chain amino acids normalize. Whenever possible, continue additional dietary support, including lipids and/or formulas free of branched-chain amino acid


The goal of dietary therapy is normalization of branched-chain amino acids (particularly of leucine) by restricting intake of branched-chain amino acids without impairing growth and intellectual development. Dietary therapy must be lifelong. Several commercially available formulas and foods are available without branched-chain amino acids or with reduced levels of branched-chain amino acids.

Products are available for juveniles and adults, such as MSUD Express. The intake of leucine is calculated on an individual basis following the measurement of plasma branched-chain amino acids. Measure plasma amino acid levels on a regular basis at appropriate intervals for the first 6-12 months of life. In addition to dietary therapy, administer thiamine (10-20 mg/d) for 4 weeks to determine thiamine responsiveness.


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