Odor | Compound | Disorder – source |
Musty, mousy | Phenylacetic acid | Classical phenylketonuria |
Maple syrup or burnt sugar | 2-Oxoisocaproic acid, 2-Oxo-3-methylvaleric acid | Maple syrup urine disease |
Sweaty feet | Isovaleric acid | Isovaleric acidemia 3-Hydroxy-3-methylglutaric aciduria |
Butanoic acid, 2-methylpropanoic acid | Multiple acyl-CoA dehydrogenase deficiency | |
Cat urine | 3-Hydroxyisovaleric acid, 3-methylcrotonic acid | 3-Methylcrotonylglycinuria Multiple carboxylase deficiency |
Cabbage like | 2-Oxobutyric acid | Methionine malabsorption Tyrosinemia 1 |
Rancid butter | 2-Oxo-4-methiobutyric acid | Tyrosinemia 1 |
Acid smell | Methylmalonic acid | Methylmalonic acidemia |
Sulfurous | Hydrogen sulfide | Cystinuria |
Fish market | Trimethylamine Dimethylglycine | Trimethylaminuria Dimethylglycinuria |
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