Black belt in taekwondo, Grade 8 in piano: S’pore teen excels despite condition that limits movements

SINGAPORE – At 15, student Lai Jia Chi holds a black belt in taekwondo and is doing Grade 8 in piano – accomplishments that might not have been possible if her rare condition had not been detected early.

Jia Chi has glutaric acidemia type 1 (GA1), an inherited metabolic disorder that prevents the body from properly breaking down certain amino acids. If left unmanaged, the condition will cause brain damage and movement difficulties.

She was born in 2010, when screening for metabolic and heritable diseases in newborns was already available. But her parents did not want her to have her blood taken at such a young age.

Her condition was detected when she was almost three years old, her father Lai Shu Hau told The Straits Times.

“One night, she became very ill and her fever was at 41 deg C. We tried to wake her up the next morning, but she was unresponsive and her eyes were rolled back. We rushed her to a nearby paediatrician, who then called an ambulance,” said the 46-year-old manager in the oil and gas industry.

Jia Chi, the older of two daughters, was diagnosed with fever caused by an infection, and with a very high level of uric acid in her urine.

Still concerned, Mr Lai asked for a DNA test to be done. That was when they found out that Jia Chi had GA1.

“She was showing symptoms in the first two years of her life. She did not want to drink milk. Neither did she want to eat meat. We just thought that she was a fussy eater, but it was her body just not wanting to have protein,” Mr Lai said.

GA1 affects the body’s ability to break down three types of amino acids – lysine, hydroxylysine and tryptophan – which are commonly found in protein-rich food such as meat and fish.

These amino acids must be broken down as the body cannot store them in large quantities. When the body cannot properly break down the amino acids, a toxic by-product called glutaric acid builds up.

Associate Professor Tan Ee Shien, who heads the genetics service at KK Women’s and Children’s Hospital, said glutaric acid can cause serious health complications, particularly affecting the brain.

She explained that the breakdown of amino acids requires an enzyme called glutaryl-CoA dehydrogenase (GCDH). Every person inherits two copies of the GCDH gene – one from each parent – which provides instructions for producing the enzyme.

“With variations in both copies of the gene, the enzyme does not work as it should, leading to a build-up of substances (glutaric acid) that can affect a person’s health,” Prof Tan said.

GA1 is considered rare, affecting about one in every 100,000 newborns worldwide.

Babies with GA1 can appear completely healthy at birth and develop normally in their early months.

“Without screening and early intervention, the first sign that something is wrong could be a sudden and devastating metabolic crisis, often triggered by a common illness like fever or infection,” Prof Tan said.

“These crises can cause stroke-like episodes that may lead to permanent brain damage, affecting movements and development. This is why early detection through newborn screening is so valuable – allowing for preventive measures to be put in place before any crisis occurs, protecting the child’s health and development.”

When detected early, those with GA1 can develop normally and effectively manage the disorder through strict dietary control, such as having a low protein intake, taking a special medical formula and taking supplements to boost carnitine – a nutrient essential for preventing muscle weakness as well as heart and liver problems.

Regular metabolic monitoring and established emergency protocols in times of illness are also essential for their care.

Mr Lai said: “We researched the condition and it turned out to be very scary. We had to limit her protein intake, otherwise GA1 can cause muscle weakness, spasticity and dystonia (which affect motor skills).”

He noted that many individuals with the condition in Singapore are now in wheelchairs.

As for Jia Chi, her condition was caught early enough, preventing brain damage.

Jia Chi’s parents made it their priority to ensure that she leads a normal and healthy life. They controlled her diet and made sure she kept to her regimen of medication and supplements. During her early years, they spent $400 a month on supplements.

“We measured everything she ate and even calculated the percentage of her carbohydrate intake” to prevent other diseases such as diabetes, said Jia Chi’s mother Liew Pui Yee, a 51-year-old adjunct lecturer at a polytechnic.

Mr Lai added: “The one thing that her mother and I are mindful of is that this condition can cause reduced muscle tone. (Since) we could not change that with meat intake, we made up for it with exercises and taekwondo classes.”

The couple also learnt that the disorder can lead to damage that particularly affects the structures in the brain called basal ganglia, which are crucial for movement.

“That was why we sent her for piano lessons. She surprised us by doing well and she is now doing Grade 8,” Ms Liew said.

Jia Chi is an Integrated Programme student at Temasek Junior College. “Sometimes I forget I have the condition, especially when I am in taekwondo class,” she said.

At times, her muscles still twitch, and that serves as a reminder to Jia Chi and her parents that she has the condition.

Prof Tan was amazed by the teenager’s achievements.

“Her obtaining a black belt in taekwondo and reaching Grade 8 in piano are truly remarkable. These accomplishments are especially significant because GA1 can affect motor skills and coordination, further underscoring the importance of early detection and appropriate medical care,” she said.