Sweet and Dangerous Smell! Newborn Baby Girl Smells Like Maple Syrup, Turns Out to Be Warning Sign of Rare Disease, Requires Liver Transplant to Save Her Life
The HK01 website reported that a baby girl in Singapore smelled like maple syrup after giving birth. Her mother is still grateful that her daughter smells good and sleeps easily, but she had no idea that her daughter actually has a rare disease.
According to Singapore media reports, 36-year-old Chen gave birth to her daughter, Elvia, in 2019. After Elvia was born, the ยูฟ่าเบท baby had a sweet syrupy scent and rarely cried, often sleeping soundly.
For Ms. Chen, this was a gift from heaven. Her first son would often wake up crying at night when he was born. She was grateful that Elvia was such a lovely child. But she had no idea that the sweet scent on her daughter’s body hid a danger.
A baby girl was diagnosed with a rare disease.
When Elvia was one week old, Ms. Chen became worried because her baby was suckling less, so she contacted the delivery center to consult with a lactation specialist. But the specialist advised her to rush her baby to the emergency department of the Women and Children’s Hospital.
There, Elvia was diagnosed with a rare genetic metabolic disorder called Maple Syrup Urine Disease and was immediately transferred to intensive care.
According to the Hong Kong Department of Health’s Newborn Metabolic Disease Screening Program, babies with maple syrup urine disease lack the enzyme “BCKAD”. Which is responsible for breaking down three branched-chain amino acids: leucine, isoleucine and valine.
A deficiency in this enzyme causes a buildup of toxic metabolites. Affecting the patient’s health and causing the patient’s urine and sweat to smell like maple syrup. Therefore, patients need to receive prompt treatment and a controlled diet, including lifelong supplementation.
According to a report in Singapore’s The Straits Times, maple syrup urine disease can cause brain swelling and damage, leading to seizures and intellectual disability. If not treated promptly, the disease can be life-threatening, with severe cases leading to death within weeks.
Chen said that when Elvia was only 14 days old. Her body level of toxic amino acids was over 3,600 and her skin was starting to develop spots. Which was a dangerous situation. Fortunately, Elvia was still breathing on her own and had no fever. Once the toxicity level dropped, the medical team allowed Elvia to go home.
The baby girl is suffering from another disease.
At 3 months old, Elvia was admitted for treatment because she refused to drink milk and was diagnosed with Laryngomalacia. She needed to be fed through a tube through her stomach. After that, Elvia developed malnutrition, skin sores, and had to be in and out of the hospital frequently due to fevers and problems with the feeding tube leaking.
Around this time, Ms. Chen and her husband learned of a case of maple syrup urine disease treated with a liver transplant overseas. They contacted the National Hospital of Singapore (NUH) to discuss plans for a liver transplant for Elvia. However, since the disease is a recessive genetic condition, in which the affected genes are inherited from both parents, Ms. Chen and her husband were unable to donate their livers.
Received a liver transplant from a donor
After waiting for 8 months, Elvia, then 3 years old, received a donation of 1/3 of her liver from a kindhearted person in 2022 and underwent the transplant. Fortunately, the surgery was successful, the new liver is working well and there has been no rejection of the organ. Although Elvia will have to take immunosuppressive drugs for the rest of her life and avoid eating raw foods or products with probiotics such as yogurt and lactobacillus drinks, Elvia is now 5 years old, healthy and able to attend kindergarten and play with her friends.