Can the absence of something cause disease?


Diseases that afflict humans don’t wait to be identified; they flow and ebb, governed by the many independent forces of nature; sooner or later, though, someone pauses, examines the blight and declares it to be distinguishable from other sicknesses; and then still others, specifically trained to explore such human singularities, provide us with a deeper understanding of the disease – including the identity of its cause.

A disease, eventually called pellagra, had afflicted humanity for millennia. The first written recognition of this illness is ascribed to an 18th century Spanish physician, Gaspar Casal, who noted a widespread disorder afflicting rural peasants typically beginning in early spring. The first signs included redness and peeling of the skin (mal de la rosa), followed inevitably by nausea, soreness of the mouth, intense diarrhea, a staggering gait and confusion.

No cause was apparent, but since it tended to cluster in families, the disorder was deemed to be but one of many heredity burdens inflicted on the descendants of past sinners. Still other observers were certain that a toxin, perhaps from a fungus contaminating foods, was the culprit. And as the germ theory of disease took root in the late 19th century, a pellagra-causing bacterium was also sought.

The scientist who solved the etiologic problem of pellagra, disproved the germ or toxic origin of the disease and led the way to its prevention and eradication was an immigrant from the Hungarian town of Giralt.

Jozsef Goldberger was born in 1874 and migrated to New York City, with his family, in 1883. He attended City College of New York but became interested in the humanitarian potential of medicine; and so he transferred to the Bellevue (New York University) Hospital Medical School and was awarded his M.D. degree in 1895.

The private practice of medicine did not fulfill his needs and so he transferred to the United States Public Health Service (USPHS), working wherever typhus, typhoid and yellow fever were rampant. His assignments took him throughout the United States, Central America and the Caribbean. And by the early 20th century, Goldberger was regarded as an authority on the transmission of communicable disease, particularly amongst inner-city populations.

In 1914, the Surgeon General of the USPHS asked Goldberger to accept the task of investigating the mysteries of pellagra – now afflicting large numbers of poor adults and children in many of the southern states – under the presumption that the pellagra was a germ-caused pestilence.

Goldberger’s subsequent epidemiologic investigations convinced him of the following: that pellagra was not a communicable disorder; that while pellagra was widespread in orphanages, asylums and prisons, it never afflicted the staff employees; and that, in general, it burdened only the poorest segment of the population

And so, he undertook two clinical experiments. He injected himself, his wife and his medical colleagues with blood and saliva drawn from pellagra-victims, with no adverse effects. Goldberger then appealed to the governor of Mississippi to undertake controlled experiments on state prisoners, with volunteers promised complete pardons. By this time, Goldberger had become convinced that pellagra was not caused by something added such as a germ or fungus, but rather it was caused by the absence of something in their diets – a radical notion generally opposed by the standard bearers of medicine.

The inmate volunteers, all suffering from pellagra, were given a more varied diet and their pellagra promptly disappeared. Providing a protein-rich diet (instead of one consisting almost solely of corn products) for the orphan-asylum children also yielded miraculous cures.

Goldberger’s contention that there were nutritionally-required elements in certain foods met with much resistance, as did his speculation that there might be an entire range of human ailments that were directly caused by the absence of special dietary substances.

The idea of needed vitamins had not yet arisen. And even the word “vitamin” was a word (from Latin “vita” and Greek “amin” invented in 1913 by yet another Jewish immigrant to these shores: the great chemist, Casimir Funk (1884-1969). And pellagra? American physicians now know of the disease, caused by niacin-deficiency, only from textbooks on medical history.

Stanley M. Aronson, M.D.  may be reached at