When The Diagnosis Is MSUD, Every Minute Counts

An Inherited Metabolism Disorder

What a difference a day makes. For a baby boy in Bengaluru, India, that day in December, 2014, ticked off the hours between a life that would likely be spent suffering from neurological disorders and a normal, healthy childhood.

When the baby’s parents brought the infant to the hospital, he was already in poor condition. He was lethargic and had trouble breathing. Initially diagnosed as “neurologically drowsy,” he was admitted into the Sick Newborn Care Unit (SNBC) and placed on a respirator. Soon after his arrival in the SNCU, the baby received a blood test on orders from a metabolic specialist on staff. Getting the results from that test led to be a nerve-wrecking race against the clock that would eventually save the little boy’s life.

Maple Syrup Urine Disorder

The baby’s blood test came back positive for Maple Syrup Urine Disorder (MSUD), so named because of the sweet odor of untreated babies’ urine. To treat the disorder, the baby was immediately placed on a special supplemental formula. Instead of improving, he lapsed into a coma – one of the classic symptoms of severe MSUD.

Despite the maple syrup analogy, there is nothing sweet about MSUD, also known as branched-chain alpha-ketoacid dehydrogenase deficiency. (Reference: Maple Syrup Urine Disease (MSUD), Healthline) Appearing in one of every 185,000 births globally, this rare genetic disorder occurs when the body lacks special enzymes to break down certain amino acids. (Reference: Maple Syrup Urine Disorder; MSUD, Online Mendelian Inheritance in Man, Johns Hopkins University) The result is an accumulation of keto acids that lead to a variety of dangerous symptoms, from seizures and neurological disorders to coma, and death. Varying forms of the disease may be milder, but even those symptoms can often flare up in times of illness or stress to cause a major metabolic crisis. (Reference: Maple Syrup Urine Disease, WebMD)

An International Network Of Healers

With their baby now in a coma, his parents went on line in a desperate bid to find anyone who could help them. Incredibly, they located another Indian couple living in the U.S. whose baby was also born in India with MSUDs. After sharing stories, both couples realized that neither infant was screened at birth for the genetic disorder. The American couple then quickly reached out to an extended MSUD support network in the U.S. with dramatic results. Dr. Kevin A. Strauss, Medical Director at the Clinic for Special Children in Strasburg, PA, responded to the urgent request.

At the same time, Mandeep Singh, Market Development Leader - Screening Systems, South Asia for PerkinElmer, based in New Delhi, India, learned of the dire situation more than 2,000 km away. Singh knew that sending a blood sample to the U.S. would take too long, so he contacted his sales manager for the Bangaluru area, Manjunath Bhat for help. Bhat immediately collected a blood sample and hand delivered it to a PerkinElmer customer, Acuity Labs, which specializes in prognostic healthcare. Within hours Acuity sent the test results to Dr. Strauss in the U.S. Dr. Strauss then called the Bengaluru medical team and provided a new formula for a modified nutritional supplement for the little newborn. Slowly, the infant emerged from his coma. All of this activity took place in a single day.

Within a few weeks, the little boy was back home with his grateful parents. Thanks to some fact-acting international cooperation and PerkinElmer’s Newborn Screening Systems, he will now be able to lead a long and healthy life with proper treatment for his congenital disorder.

The Importance Of Newborn Screening

While newborn screening is common in the U.S. and other countries, the number of diseases that are screened varies widely around the globe. Many other parts of the world, including India, do not have mandatory newborn screening programs at all, largely because of cost. (Reference: Newborn Screening in India: Current Perspectives, Indian Pediatrics)

Thanks to companies such as PerkinElmer, a global leader in newborn screening services, inexpensive screening tests for newborns are growing in popularity around the world. Throughout Asia, for instance, government, medical centers, and company officials are working together towards the goal of screening all newborns as part of a global public health initiative… one heel prick at a time.