What She Thought Was a Sweet Scent but Turned Out to Maple Syrup Urine Disease

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Images via The Straits Times/Asia News Network

Felicia Tan thought she had been blessed when her daughter, Elvia Lim, was born in 2019. Unlike her firstborn, who cried constantly, Elvia seemed like an ideal baby—always calm, sleeping well, and smelling sweet, like maple syrup. “My firstborn, a boy, cried throughout the night. Elvia was different. She smelled as sweet as maple syrup. She hardly cried and always slept,” said Tan to The Straits Times.

But this sweetness hid a serious condition. When Elvia was just a week old, she wasn’t drinking enough milk, prompting Tan to consult a lactation specialist. Concerned, the specialist urged her to take the baby to the emergency department at KK Women’s and Children’s Hospital. There, Elvia was diagnosed with maple syrup urine disease (MSUD), a rare genetic disorder where the body can’t break down certain amino acids, particularly leucine. The condition leads to a dangerous build-up of substances in the blood and urine, potentially causing severe brain damage or even death if untreated.

Elvia, just 14 days old, was rushed to the ICU. Doctors were alarmed by her elevated amino acid levels—over 3,600—but fortunately, she was breathing on her own and had no fever. After stabilizing her, the hospital sent her home, though the long-term prognosis remained uncertain.

“I was told her toxic amino acid levels were more than 3,600 and that she should have been critical, but she was able to breathe on her own and there was no fever,” shared Tan.

MSUD, affecting about 1 in 180,000 newborns, requires a strict lifelong diet limiting protein. Elvia’s parents learned about the potential of liver transplantation as a long-term treatment and decided it was the best way forward.

However, Elvia’s health remained fragile. At three months, she returned to the hospital due to feeding issues and was diagnosed with laryngomalacia, a disorder where tissues above the voice box obstruct the airway. This diagnosis led to the insertion of a gastrostomy tube for direct feeding, a difficult decision for Tan, who was weighed down with guilt. “She had to be fed every two hours and her stomach capacity then was only 100ml,” Tan recalled.

Months later, the family discovered the liver transplant’s success in treating MSUD. It was initially found when a child in the United States, who had MSUD, underwent liver transplantation for another reason, only to find the metabolic disorder resolved post-surgery. Elvia’s parents decided to pursue the operation, transferring her care to the National University Hospital (NUH).

Finding a donor was a challenge, as neither parent could donate due to genetic factors linked to the disorder. Eventually, they located a suitable altruistic donor. Elvia underwent the 10-hour surgery in 2022, receiving a portion of the donor’s liver. The procedure was successful, although the risks were significant.

“The liver needed to work immediately, otherwise Elvia would develop a metabolic crisis,” said Dr. Vidyadhar Mali, the surgical director overseeing her case.

Post-transplant, Elvia’s care involved meticulous monitoring of her nutritional status. Special formulas were prepared using amino acids sourced globally to ensure her MSUD did not worsen. She also requires lifelong immunosuppressants to prevent organ rejection. Her primary care will continue under a team of specialists until adulthood.

Now, two years after the transplant, Elvia is thriving. She attends preschool, plays with friends, and eats like a typical child, except for avoiding probiotic foods. The once sweet-smelling baby has shed her old image, earning a new nickname from her teachers.

“Instead, her teachers have given her a new nickname – the little hungry monster,” Tan said, laughing.

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