John H. Menkes, MD, a renowned child neurologist who first identified the genetic disorder of copper metabolism that became known as “Menkes disease” and established the pediatric neurology program at the University of California-Los Angeles (UCLA), died on Nov. 22 in Los Angeles from complications of cancer. He was 79.
Dr. Menkes was director of pediatric neurology at Cedars-Sinai Medical Center and a pediatric neurologist at the Cedars-Sinai Neurofunctional Surgery Center in Los Angeles.
Born in Vienna in 1928, Dr. Menkes moved with his family first to Ireland during his childhood and then later to Los Angeles. After earning bachelor's and master's degrees in organic chemistry at the University of Southern California, he completed his medical degree at the Johns Hopkins University School of Medicine in 1952. He completed his internship at Children's Medical Center in Boston, pediatric residency at Bellevue Hospital in New York City, and his pediatric neurology residency at the Neurological Institute of New York of Columbia-Presbyterian Medical Center.
In 1951, while Dr. Menkes was an intern at Boston Children's Hospital, he first encountered an infant with what later came to be known as Menkes' syndrome 1, or maple syrup urine disease (so-named because the patient's urine and perspiration smelled like maple syrup). At that point he prepared the first comprehensive description of the extremely rare disorder, but it wasn't until several years later while he was a resident at the New York Neurological Institute that he obtained another sample of the urine and did the biochemistry himself, identifying the enzyme defect.
The syndrome is X-linked and is caused by the lack of an enzyme that is essential in the metabolism of copper; the disorder is characterized by growth retardation as well as focal cerebral and cerebellar degeneration.
“John Menkes was an astute clinician and a bench-to-bedside researcher well before that term became popular,” Stephen Kaler, MD, head of the Unit on Pediatric Genetics in the Molecular Medicine Program and clinical director of the Intramural Research Program at the National Institute of Child Health & Human Development (NICHD), told Neurology Today. Identifying maple syrup urine disease “may have meant more to him than his many other successes, because the work eventually led to population-based newborn screening for this condition, which has spared many individuals from severe lifelong disability through early detection and diet modification.”
While during his pediatric neurology fellowship in the late 1950s, Dr. Menkes saw an infant who appeared normal at birth but later developed hypotonia and seizures, and had coarse, brittle hair. In 1962 Dr. Menkes and his colleagues at Columbia University published an article about five infant boys in the same family with a distinctive genetic syndrome, now known as kinky hair disease or Menkes syndrome 2 because Dr. Menkes was the first to identify it. “His initial delineation remains the most thorough clinicopathological description of this disease in the medical literature,” said Dr. Kaler.
Dr. Menkes briefly served as head of pediatric neurology at the Johns Hopkins Hospital before joining the faculty of UCLA in 1966 to head a new division of pediatric neurology, where he spent more than 30 years. Dr. Menkes was instrumental in recruiting prominent researchers to his division and he led multiple studies on metabolic and genetic disorders of the brain.
In 1974 he entered private practice, but ten years later he returned to UCLA as professor of neurology and pediatrics. In 1997 he became director of pediatric neurology at the Cedars-Sinai Medical Center in Los Angeles.
Dr. Menkes served as the Dystonia Medical Research Foundation's first medical and scientific director. “He was the kind of physician a parent wants and needs when they have a sick child,” said Janet L. Hieshetter, executive director of the Dystonia Medical Research Foundation in Chicago, IL. “Thousands of families were fortunate to have Dr. Menkes in their corner as they faced the challenges of a child with a neurological illness. He will be missed greatly.”
Dr. Menkes was a member of the Forum for Vaccine Safety with the National Institute of Medicine and the editorial boards of Continuum, the Bulletin of Clinical Neuroscience, and the Emirates Medical Journal. He was a prolific author, publishing more than 100 journal articles, 50 book chapters, and the seminal Textbook of Child Neurology, now in its seventh edition, which since 1974 has been a standard textbook in the field.
“The world of pediatric neurology lost an icon and one its contemporary fathers, and the World at large lost a true Renaissance Man — physician; scientist; playwright; philosopher; connoisseur of good literature, art, music, and food; humanist and liberal thinker who deplored discrimination, intolerance, prejudices, and false values of all types,” said Harvey B. Sarnat, MD, professor of pediatrics, pathology (neuropathology), and clinical neurosciences at the University of Calgary in Alberta, Canada, who has known Dr. Menkes since 1975 and co-authored the sixth edition of Textbook of Child Neurology with him. “I personally miss him greatly and remember him fondly.”
Dr. Menkes also wrote several novels and plays based on his experiences as an expert witness for the plaintiffs in trials involving damages caused by vaccines, including The Angry Puppet Syndrome (1999).
Dr. Kaler described meeting a reserved and humble Dr. Menkes at a 1995 research meeting banquet in Baden, Austria. “Between chattering in German with the wait staff, John discussed his early life and career with me, as well as Irish history, an unexpected mutual interest,” he said. “For me, that evening remains a scintillating memory of a gifted physician, clinical investigator, and humanist, and I am saddened by his passing.”
Dr. Menkes is survived by his third wife, Myrna; two sons, a daughter, a stepson, a stepdaughter; and a granddaughter.