Do you smell like rotting fish? Scents may help diagnose rare genetic disorders

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Rare condition leaves London singer Cassie Graves smelling of rotting fish

A variety of methods are used to diagnose genetic diseases, including physical examination, a review of personal/family medical history, and tests performed in a laboratory. Smells can also be used to make a diagnosis for some genetic diseases. Smells are caused by small, unstable compounds that activate the olfactory receptors. Interestingly, there are several genetic diseases that prevent an individual’s body from breaking down certain compounds. When those compounds build up in the body, they can create specific scents.

Trimethylaminurea (TMAU) is a rare genetic disorder that has a distinctive fish-like body odor. The odor occurs when unusually high levels of trimethylamine (TMA) are released in the urine, breath, and sweat. The odor is described as like rotting fish or rotting eggs…

Maple syrup urine disease (MSUD) is an inherited metabolic disorder named, not surprisingly, after the hallmark maple syrup odor of the urine. This unique odor is due to an accumulation of amino acids in the urine….

While these diseases are each associated with a specific smell, it’s important to note they also have other signs and symptoms and require the examination by a geneticist and/or other healthcare providers.

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion, and analysis. Read full, original post: Using Smell to Diagnose in Genetic Diseases