Rare genetic disorder causes Portuguese boy to reek of dead fish every time he eats seafood

As many people have pointed out, it's basically the case that we don't actually like the taste of "fish." After all, one of the worst things you can say about a food — particularly fish! — is that it smells or tastes "fishy."

So you can imagine how difficult it was for this Portuguese family when their son started smelling, well, exactly like that.

Shortly after eating different types of fish, the child would develop an odor of rotting fish emanating from his body. The smell was noxious and powerful, especially around his head and hands. He was 10 months old the first time this happened. ... His mother temporarily put him on a fish-free diet, but after she reintroduced fish to his meals two months later, the odor returned.

Well, look, first of all, I'm not trying to parent-police here, but if my own kid started smelling like "rotting fish" every time he ate a piece of cod, I think I'd never "reintroduce" fish to him; I think rather I'd find all the fish in a 500-mile radius and throw them away.

This is Portugal, however, which has a very seafood-heavy cuisine, so of course you could understand why a parent there would be extremely anxious to solve this problem.

Doctors examined the young boy and guessed that he had "trimethylaminuria," also known as "fish odor syndrome," in which "breath, saliva, sweat and urine smell like decaying fish." Here's a breakdown of that ailment:

Rotten fish gets its distinctive smell from a molecule called trimethylamine, and the human body produces trimethylamine from nitrogen-rich foods, such as fish. An enzyme called flavin-containing monooxygenase 3 (FMO3) breaks down trimethylamine in the body, changing it to the odorless compound trimethylamine N-oxide. But if the enzyme isn't working as it should, trimethylamine accumulates in the body and can make a person produce a foul, rotting-fish aroma.

Doctors, however, weren't very alarmed; they suggested the parents "reintroduce fish to the child's diet in small increments" and that they "manage any lingering smell with a low-pH soap." The smell went away and hadn't returned after several years. (Though trimethylaminuria is normally incurable, doctors suggested that the "immaturity of [the young patient's] metabolism" might have rendered this a temporary case.)

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Sidebar: Brave search AI results, “hereditary disease descendants of portuguese sailor”

The hereditary disease affecting the descendants of Portuguese sailor Antone Joseph, who settled in California in 1845, is a rare, fatal, autosomal dominant neurodegenerative disorder that was later identified as Machado–Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3).

The disease was first described in families from São Miguel Island in the Azores, Portugal, in 1972, and the Joseph family in California was among those diagnosed with the condition.

The disease, which began with Antone Joseph and has been passed down through generations, is characterized by progressive neurological deterioration, including impaired coordination, muscle stiffness, slurred speech, and difficulty swallowing, ultimately leading to death from pneumonia.

Symptoms typically begin in the early 30s, though they can appear as early as age 15 or as late as 45, and the disease progresses over about 20 years.

In 1975, nearly 100 descendants of Antone Joseph gathered at Oakland Children’s Hospital in California for genetic counseling and neurological exams conducted by Dr. William L. Nyhan and Dr. Roger Rosenberg, who named the condition striato nigral disease.

The family had long suffered from the disease without a proper diagnosis, often misattributed to other conditions like ataxia or even syphilis, and the condition was shrouded in secrecy and stigma.

Genetic research indicates that Machado–Joseph disease has multiple origins, with founder effects in the Azores, Japan, Brazil, and France, and the Azorean variant is linked to a mutation on chromosome 14q24.3–32.

The Joseph family’s lineage is believed to have originated from Portugal’s northeast, possibly involving Sephardic Jewish populations, and the disease spread through migration, including to New England and California.

Despite the lack of a cure, the 1975 gathering marked a pivotal moment in the family’s history, enabling genetic awareness and counseling for future generations.

AI-generated answer. Please verify critical facts.

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