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Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants' urine. Beginning in early infancy, this condition is characterized by poor feeding, vomiting, lack of energy (lethargy), and developmental delay.
Maple syrup urine disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated.
MSUD is caused in
chromosome 1 by a mutation in the DBT gene,
chromosome 6 by a mutation in the BCKDHB gene,
chromosome 7 by a mutation in the DLD gene,
and chromosome 19 by a mutation in the BCKDHA gene.
MSUD is gene mutation caused by deletion in chromosome 1, chromosome 6, chromosome 7 and chromosome 19.
MSUD can be treated with: