Maple Syrup Urine Disease
Maple Syrup Urine Disease (MSUD) is a genetic autosomal recessive metabolic disorder where the body cannot metabolize branched-chain amino acids, leading to a distinctive sweet odor in urine and earwax, and if left untreated through diet modification, it can result in severe neurological symptoms and death within weeks to months. It was first described by John Menkes in the 1950s.
Health Outcomes
- Absence of Adverse Physiological Effects
- Altered Amino Acid Metabolism
- Improved Amino Acid Composition
- Improved Growth and Economic Traits
- Increased Amino Acid Concentration
- Increased Anion Gap
- Increased Asparagine Levels
- Increased Organic Acid Levels
- Increased Thiamine Diphosphate Level
- Increased Tiglylglycine Level
- Increased Urinary Isobutyrylglycine Level
- Reduced Isovaleric Acid Concentration
- Reduced Precursor Amino Acid Availability
- Reduced Urinary Nitrogen Excretion