Monday, Feb 26, 2024
engineered enzymes for better healthcare


Maple Syrup Urine Disease (MSUD) is a disorder due to a deficiency of an enzyme affecting the metabolism of branched-chain amino acids. The MSUD incidence is on average 1 in 200,000 newborns in the world (1 in 125,000 in Ireland). Newborns with MSUD typically appear normal, but by the first week of life can present with feeding difficulties, lethargy and failure to thrive. MSUD in newborns can lead to progressive neurological problems, acidosis, seizures and sudden apnoea that can rapidly lead to coma and death. Early detection and strict dietary treatment can prevent severe mental retardation and death.

Product Info


amino acid disorders productDisorders of Amino Acid Metabolism

PKU        Phenylketonuria

MSUD     Maple Syrup Urine Disease

HCY        Homocystinuria

TYR-I      Tyrosinaemia Type-I


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