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Charles Upton Lowe

Born  1921

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American paediatrician, born August 24, 1921, Pelham, New York.

Biography of Charles Upton Lowe

We thank Richard Alan Lewis, M.D., M.S., for submitting the biography of Charles Upton Lowe. Lewis is Professor, Departments of Ophthalmology, Medicine, Pediatrics, and Molecular and Human Genetics Faculty Associate, Huffington Center on Aging. Lewis was directly involved in the mapping and cloning of the gene for Lowe Syndrome.

Charles Upton Lowe, M.D.
Charles Upton Lowe was born in Pelham, New York 24 August 1921. He was educated at the Horace Mann School in New York, Harvard College cum laude (Class of 1942), and was graduated from Yale Medical School cum laude in 1945. After his internship and Residency in Pediatrics at Boston Children’s Hospital, he served as Chief Resident in Pediatrics at the Massachusetts General Hospital.

In 1952, Dr. Lowe reported (1) the histories of three unrelated male infants (with photographs of two of them) who shared the distinctive characteristics of bilateral dense congenital cataracts, congenital glaucoma and “hydrophthalmos”, developmental retardation, hyporeflexia with motor ‘hyperactivity’, flabby musculature but abundant subcutaneous fat, frontal bossing, metabolic acidosis, albuminuria and aminoaciduria without phosphaturia, bone demineralization or osteopenia and rickets, decreased ammonia production, and a “peculiar, high-pitched, irritating cry”. His co-authors, Mary Terrey and Elizabeth MacLachlan, provided the laboratory analyses and showed that this disorder, initially called “Dr. Lowe’s disease” in the medical records at the Massachusetts General Hospital, was both phenotypically and biochemically distinct from historical forms of the renal Fanconi syndrome.

His major review of the Oculo-Cerebro-Renal Syndrome, as it was eventually called, summarized some 57 “acceptable” cases in 1968 (2). Here he emphasized the renal and CNS pathology, expanded descriptions of the biochemical abnormalities, and focused the X-linked inheritance described by others.

His academic career was devoted to metabolic disorders at the University of Minnesota, University of Buffalo, and the University of Florida, but he spent most of his senior career first as Scientific Director at the National Institute of Child Health and Human Development and then in various posts in the National Institutes of Health and the Department of Health, Education, and Welfare, fomenting clinical trials of new vaccines in the U.S., India, Nepal, and Sweden.

After his retirement in 1994, he returned to Cambridge Massachusetts as a fundraiser for Harvard College, where he endowed the Charles and Eileen Lowe Career Decision Fund and served as the Historian and Archivist for Lowell House, his undergraduate residence.

As an incidental historical footnote, Dr. Lowe and his colleagues used the methods of C.E. Dent1 to analyze the qualitative abnormalities of amino acid excretion in the original cases. In 2005, mutations in the OCRL1 gene for Lowe Syndrome were shown (3) to cause some cases of X-linked nephrolithiasis without cataract, known as Dent Disease.


  • Charles Upton Lowe, M.D., Mary Terrey B.A., E.A. MacLachlan B.A.:
    Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity.
    American Journal of Diseases of Children, 1952; 83: 164-184. 2.
  • Valiollah Abbassi, Charles U. Lowe, Philip L. Calcagno:
    Oculo-Cerebro-Renal Syndrome. A Review.
    American Journal of Diseases of Children, 1968; 115: 145-168. 3.
  • R.R. Hoopes, A.E. Shrimpton, S.J. Knohl, P. Hueber, B. Hoppe, J. Matyus, A. Simckes, V. Tasic, B. Toenshoff, S.F. Suchy, R.L. Nussbaum, S.J. Scheinman:
    Dent Disease with Mutations in OCRL1.
    American Journal of Human Genetics, 2005;76(2) (in press January 2005).

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