One of MY TOUGHEST Cases: A Body That Wouldn’t Process A VitaminChildren’s Hospital of New Orleans | Division of Clinical Genetics | 200 Henry Clay Ave., Suite 2308 | New Orleans | 896-9254
28 years in practice
Bachelor of Science in Microbiology – University of Arizona, Tucson
M.D – Indiana University School of Medicine, Indianapolis, Indiana
Native of Indiana
Hyperventilation, hallucinations, massive hair loss – the 6-year-old girl had spent her life suffering from all of these ailments and more.
For a time she had found some relief through an herbal supplement, but when the product went off the market, her parents were back to square one, desperate for answers.
Like many whose children suffer with unexplained illness, this family eventually found themselves talking to Dr. Michael Marble, clinical and biochemical geneticist.
“It turns out she had a very rare genetic disorder that occurs in about one out of every 100,000 people called profound Biotinidase Deficiency,” he says. “It’s a deficiency where the body has problems processing a vitamin called Biotin that we obtain from our diet.”
Biotin supports the health of everything from individual cells to the skin, nerves and digestive system.
“The treatment happens to be easy – a Biotin supplement taken twice a day,” Marble explains. “I called the company of the supplement she had taken and it turns out one of the ingredients was Biotin. That’s why she had seen improvement on it.”
Dr. Marble solves mysteries like this all the time. Triple-board certified in pediatrics, clinical genetics and clinical biochemical genetics from Johns Hopkins School of Medicine, he’s affiliated with both the Department of Pediatrics/Division of Clinical Genetics at LSU Health Sciences Center and Children’s Hospital of New Orleans.
Particularly proud of his work addressing disorders in their earliest stages, Marble is a member of the newborn screening advisory committee and past chairperson of the newborn screening ad hoc subcommittee, involved in determining which disorders to add to the testing panel given to every newborn in Louisiana.
“Newborn screening is a very exciting aspect of clinical genetics because the state’s screening program allows for early diagnosis of metabolic disorders,” he says. “This enables early treatment which can prevent or reduce disabilities and mortality associated with genetic metabolic disorders.”
If a newborn does test positive for any metabolic disorder, they are placed in the care of someone like Dr. Marble.
“I am proud that LSU has a very strong clinical genetics group,” he says. “We provide very comprehensive clinical services to our patients through our main clinics at Children’s Hospital of New Orleans and at satellite clinics in south Louisiana.”
The LSU genetics team evaluates everything from developmental delays to Downs Syndrome, to cancer genetic syndromes and other conditions.
Marble says he’s excited about all the breakthroughs that have occurred in the science of genetics, and all that is to come.
“In the near future it may become routine to look at the entire genome of a patient,” he says. “That will help us solve a lot of diagnostic dilemmas that are currently still a mystery.”