MSUD is an autosomal recessive metabolic disorder affecting branched-chain amino acids.
It is one type of organic academia.
The condition gets its name from the distinctive sweet odor of affected infants’ urine, particularly prior to diagnosis, and during times of acute illness.
Maple syrup urine disease can be classified by its pattern of signs and symptoms, or by its genetic cause.
The most common and severe form of this disease is the classic type, which appears soon after birth, and as long as it remains untreated, gives rise to progressive and unremitting symptoms.
Variant forms of the disorder may become apparent only later in infancy or childhood, with typically less severe symptoms that may only appear during times of fasting, stress or illness, but still involve mental and physical problems if left untreated.
MSUD watches for amino acid isoleucine , Leucine and Valine
