Dr. John H. Menkes, the pediatric neurologist who identified Menkes disease, maple syrup urine disease and other congenital disorders of the neural system and established the pediatric neurology program at UCLA, died Nov. 22 at Cedars-Sinai Medical Center in Los Angeles of complications of cancer. He was 79.
Later in his career, he served as an expert witness for the plaintiffs in a number of trials involving damages caused by vaccines, and wrote three novels and as well as three plays that were produced in Los Angeles, one of which won the prestigious Drama-Logue Award.
"He was a true pioneer in the field," said Dr. Raman Sankar, the current chief of pediatric neurology at UCLA. "He was one of the giants."
Menkes was an intern at Boston Children's Hospital in 1951 when he encountered a newborn infant who was very drowsy and failed to take formula. The infant had been provisionally diagnosed with kernicterus, a form of brain damage caused by jaundice.
In talking to the mother, Menkes learned that the urine of two earlier children who had died had an unusual odor, while that of a daughter who lived did not. By the infant's third day, its odor and perspiration had also begun to smell strange.
"I am sure that I must have asked nearly everyone at the hospital but could get no better answer than that it smelled like maple syrup," Menkes later wrote. "After all, we were in New England."
Menkes prepared the first thorough description of the disorder, but did not have enough urine to isolate the chemical responsible.
Several years later, while performing on a fellowship at the New York Neurological Institute, he obtained another sample of the urine. Working in the corner of another researcher's laboratory, and with a princely budget of $35, he isolated abnormally high quantities of branched-chain amino acids in the urine that were responsible for the odor.
Eventually, it was shown that the disorder, which affects one in 180,000 babies -- but has a much higher incidence in the Amish and Mennonite communities -- is caused by an enzyme defect that prevents normal breakdown of the amino acids.
During his residency at Johns Hopkins University, Menkes came upon another infant who had appeared normal at birth but later developed floppy muscle tone, seizures and failure to thrive, among other symptoms. The boy also had coarse, brittle hair like the strands of a Brillo pad.
Menkes was the first to describe the syndrome, which affects about one in 250,000 infants. Researchers later discovered it is caused by a defective enzyme on the X- chromosome that interferes with the metabolism of copper. The disorder is now called kinky hair syndrome or Menkes disease.
Because of his identification of these and other congenital disorders, Menkes was approached by a publisher interested in a pediatric neurology textbook that focused on new developments in the neurosciences. "Textbook of Child Neurology," first published in 1974, became the standard textbook worldwide in the field. Its seventh edition was published in 2006, and an eighth will be published posthumously.
In 1966, he was recruited to head a new division of pediatric neurology at UCLA, the first on the West Coast. He brought in a variety of other prominent researchers, and they published numerous articles on metabolic and genetic disorders of the brain.
John Hans Menkes was born Dec. 20, 1928, in Vienna, the scion of four generations of physicians. Through what he called "a nearly miraculous intervention," Menkes, his mother and father escaped to Ireland in 1939, a few days before the outbreak of World War II, but most of the rest of his family remained behind and died.
He learned English with an Irish accent. He attended high school at Wesley College in Dublin, but when the family was finally able to immigrate to California, he completed his education at Dorsey High School in Los Angeles. His original goal was to be a journalist, but at his father's urging he settled on medicine instead.
He earned his bachelor's and master's degrees in organic chemistry at USC in 1947 and 1951, respectively, then enrolled at the Johns Hopkins University School of Medicine, where he earned his medical degree in 1952.
During his pediatric residency at Johns Hopkins, Menkes was drafted by the Air Force and sent to Newfoundland, Canada, where he was chief of the pediatric section of the hospital at Pepperrell Air Force Base.
After a few years at UCLA, Menkes moved his research lab to the Veterans Administration hospital in Brentwood. When his laboratory was later requisitioned for psychiatric research, he decided to enter private practice, establishing a thriving practice in Beverly Hills.
Menkes alienated some of his colleagues by serving as a witness in several trials, particularly some in which parents claimed that the diphtheria-pertussis-tetanus, or DPT, vaccine catastrophically damaged their children.
That experience made him "financially far more successful than he would have been at a university," Sankar said, and Menkes used some of the proceeds to become a noted art collector.
Some of his courtroom experiences made it into his first novel, 1999's "The Angry Puppet Syndrome," about a physician's efforts to force pharmaceutical companies to withdraw an antidepressant that had horrible side effects.
His 1986 Holocaust drama, "The Last Inquisitor," won a Drama-Logue award.
Menkes is survived by his third wife, Myrna; two sons, Simon of Atlanta and Rafael of Manhattan Beach; a daughter, Tamara of Los Angeles; a stepson, Gregory Stogel of Prague, Czech Republic; a stepdaughter, Sydney Simon of Los Angeles; and a granddaughter, Madeleine.
A memorial service is planned for 11 a.m. Dec. 12 at Mt. Sinai Memorial Park, 5950 Forest Lawn Drive, Los Angeles.
Maugh is a Times staff writer.