Her daughter's sweet scent hid a rare, deadly condition

Genetic metabolic disorder is treated with lifelong diet restricting protein intake

- Judith Tan

Sugar and spice, and all things nice - that was what Madam Felicia Tan thought little girls were made of when her daughter Elvia Lim was born in 2019.

"My firstborn, a boy, cried throughout the night. Elvia was different. She smelled as sweet as maple syrup. She hardly cried and always slept," the 36-year-old housewife said, telling The Straits Times that she was blessed to have a baby girl who was naturally this way.

What Madam Tan did not know was that her daughter's sweet fragrance hid a sinister underlying condition.

But she noticed that Elvia, at a week old, was not drinking enough breast milk. Concerned, she contacted Thomson Medical, where she had given birth.

"I thought the issue was mine, so I made an appointment with the lactation consultant and I brought her along." Madam Tan said.

The lactation nurse told the parents to rush the newborn to the emergency department at KK Women's and Children's Hospital.

Elvia was taken to the intensive care unit after she was diagnosed with maple syrup urine disease (MSUD).

She was then 14 days old.

In this rare inherited genetic metabolic disorder, the body cannot process certain amino acids, especially leucine, causing a harmful build-up of substances in the blood and urine. Amino acids are formed when protein in food is digested.

A sudden, severe spike in leucine in the blood can cause brain swelling and damage, seizures, long-term intellectual disability, and even death when left untreated.

Chronic elevations in leucine, even at moderate levels, can predispose individuals to brain damage.

The severity of MSUD ranges from mild or intermittent to severe, the most common form.

A baby with the severe disease may not survive more than a few weeks without treatment.