When a rare disorder leaves a toddler struggling to produce energy

Medical Mysteries is a series that spotlights rare diseases or unusual conditions.

Little Oliver Soh began having seizures and showed signs of developmental delay within months of his birth. The toddler, seen here with his father, Keltonn Soh, and mother, Leow Kai Wen, has primary coenzyme Q10 deficiency.

Published Sep 05, 2026, 12:00 PM

Updated Sep 05, 2026, 12:00 PM

Oliver Soh was diagnosed with a rare genetic disorder called Primary Co-enzyme Q10 deficiency, which affects cell energy production and causes developmental delays and seizures.

Treatment includes high-dose CoQ10 supplements and seizure medication, but the supplement cannot fully reach the brain; multidisciplinary care supports his progress.

Caring for Oliver is costly and emotionally challenging for his family, highlighting financial and systemic difficulties faced by families with rare medical conditions in Singapore.

SINGAPORE – Three-year-old Oliver Soh was born healthy, then came the signs that something was not right.

His mother, Leow Kai Wen, became concerned a few months after his birth when she felt “something was off with him”.

“There wasn’t much eye contact when I played with him or interacted with him. I have an older son, so I just kept watching the videos I took of him . My first guess was autism,” said Leow, 38, a vice-principal at a pre-school.

Then Oliver started jerking and vomiting. His parents thought it was the result of a road accident.

“It was three days after a bus hit my car from behind. He was then only three months old,” his father, civil servant Keltonn Soh, 40, said.

As Oliver was not meeting the developmental milestones expected of a baby his age, he was sent for an electroencephalogram (EEG), a non-invasive test that records brain activity using sensors placed on the scalp.

“The results seemed a little off, but they were still in the normal range. A month later, he had infantile spasms. I was carrying him when his arms and legs flailed up repeatedly. I counted. It was at least 20 times. He was sent for another EEG and scans. It was confirmed that he had infantile spasms and was treated with steroids,” Leow said.

Soh said his son’s steroid therapy was abruptly stopped rather than slowly weaned, causing the spasms to return. He spent his first birthday in hospital.

For more than a year, the family searched for answers and eventually found them after putting Oliver through genomic testing at the National University Hospital (NUH).

In May 2024, when Oliver was 15 months old, he was diagnosed with primary coenzyme Q10 (CoQ10) deficiency, a rare genetic disorder caused by gene mutations that disrupt the body’s ability to make enough of this natural substance, which is vital for cell energy and protection.

“I remember sitting in the carpark and both of us cried. That was when I knew my insurance for Oliver was voided. But as a couple, we decided to give our son his best life,” Soh said.

Cellular energy production disrupted

Geneticist Chin Hui-Lin from NUH explained that CoQ10-related disorders do not have a biochemical signature that is evident in a newborn, making them undetectable by the National Expanded Newborn Screening programme.

She noted that primary CoQ10 deficiency is extremely rare, belonging to a specific family of mitochondrial disorders that impair cellular energy and protection.

“Collectively, the prevalence is one in 100,000 people. For CoQ10 specifically, it is a rarer subset of this,” Chin said.

“The particular mutation that Oliver was detected with is an East Asian founder variant, which means it is only uniquely detected in East and South-east Asians (particularly southern Chinese cohorts).”

Furene Wang, a paediatric neurologist with the Khoo Teck Puat – National University Children’s Medical Institute at NUH, said: “For Oliver, his brain, in particular, lacks CoQ10. His deficiency results in developmental delays, feeding difficulties and epilepsy.

“We are also monitoring his other organs as (the condition) can affect his hearing, vision and sometimes his heart and kidneys . These are organs that are very mitochondrial-driven and demand high energy. ”

Paediatric neurologist Furene Wang (left) and geneticist Chin Hui-Lin from NUH with Oliver Soh, who has primary co-enzyme Q10 deficiency, a rare inherited disorder caused by mutations in the COQ4 gene. ST PHOTO: BRIAN TEO

Paediatric neurologist Furene Wang (left) and geneticist Chin Hui-Lin from NUH with Oliver Soh, who has primary co-enzyme Q10 deficiency, a rare inherited disorder caused by mutations in the COQ4 gene.

To manage his condition, the doctor prescribed a supplement with extra high doses of CoQ10, “which is essential in replacing his deficiency”.

“The difficulty with that is the CoQ10 actually does not cross the blood-brain barrier. Even though there are high levels (of CoQ10) in the blood, it does not necessarily mean there are high levels in the brain. In that sense, it is hard to test the brain levels of CoQ10. But we still measure blood levels as a surrogate marker,” Wang said.

The blood-brain barrier is a protective border of cells that separates circulating blood from the brain’s fluid, allowing vital nutrients like water, oxygen and glucose to pass into the brain while keeping harmful toxins, bacteria and large molecules out.

Wang said that while the supplement is one of the treatments for the disorder, it is not a cure because it does not replace the faulty gene; it simply improves the CoQ10 levels.

“It has been shown to help with seizures. It may even help prevent certain organ dysfunction like (that of) the heart. It is really the main management for Oliver. He is also on anti-seizure medicine.

“Whenever he has bad seizures, they actually affect his development and progress. It was only after controlling them with Keppra that we started to see some improvement in terms of his interactions and motor skills,” Wang said.

The other mainstay of treatment is multidisciplinary care involving therapists, the dietician and the feeding clinic – all these stakeholders contribute greatly to his progress.

Since then, Oliver’s seizures have become better controlled, and he has continued to reach developmental milestones, including sitting and standing with support, reaching for objects independently, calling out to family members and becoming more responsive.

High cost of treating rare conditions

Keltonn Soh feeding his son Oliver mashed avocado and banana for dinner. ST PHOTO: BRIAN TEO

Keltonn Soh feeding his son Oliver mashed avocado and banana for dinner.

Managing a child with a rare condition in Singapore can be expensive, with costs ranging anywhere from $2,000 to over $24,000 per month, especially when specialised drugs or gene therapies are needed.

“Middle-income families like ours may look like we earn enough not to qualify for subsidies, yet we still carry exceptional and long-term costs in caring for Oliver. We work hard precisely because we need to build a secure future for him, especially when we may no longer be around to care for him,” Soh said.

“The medication, visits to multiple specialists and therapists, and tests – they are expensive. That is the cost we will need to bear for the rest of our lives, and unfortunately, without any subsidies,” Leow added.

But no amount of money is too much for Oliver’s health, they both agreed.

“Every child has videos and photos of their milestones and birthday celebrations, but when I look back at the memories on my mobile phone, I see Oliver in the hospital. Even Apple Memories automatically creates an album of him in hospital.

“As his mum, it pains me a lot,” Leow said, tears flowing.

“That is why we want our two boys to enjoy their childhood. We also do not want to shortchange our older son, Liam, of his childhood. We take them overseas every year even though it is a logistical nightmare. If Apple Memories on the phone creates such awful ones, we can create better ones for them,” Soh added.

Judith Tan is health correspondent at The Straits Times.

ST Medical Mysteries

National University Hospital

《医学谜案》是一档聚焦罕见疾病或不寻常病症的系列节目。

小奥利弗·索出生几个月后就开始出现癫痫发作和发育迟缓的迹象。照片中，他与父亲凯尔顿·索和母亲廖凯文在一起，患有原发性辅酶Q10缺乏症。

发布于 2026 年 9 月 5 日 下午 12:00

更新于2026年9月5日中午12:00

Oliver Soh 被诊断患有一种罕见的遗传性疾病，称为原发性辅酶 Q10 缺乏症，这种疾病会影响细胞能量产生，导致发育迟缓和癫痫发作。

治疗包括大剂量辅酶Q10补充剂和抗癫痫药物，但补充剂无法完全到达大脑；多学科护理支持他的康复。

照顾 Oliver 对他的家庭来说既费钱又费力，这凸显了新加坡患有罕见疾病的家庭在经济和体制方面面临的困难。

新加坡——三岁的奥利弗·苏出生时很健康，但随后出现了一些迹象表明他身体出了问题。

他的母亲廖凯文在他出生几个月后感到“他有些不对劲”，便开始担心起来。

“我和他玩耍或互动时，他很少与我进行眼神交流。我有一个大儿子，所以我反复观看我拍的他的视频。我首先想到的就是自闭症，”38岁的Leow说道，他是一家幼儿园的副园长。

随后奥利弗开始抽搐和呕吐。他的父母以为这是交通事故造成的。

“三天前，一辆公交车从后面撞上了我的车。当时他才三个月大，”他的父亲，40岁的公务员Keltonn Soh说道。

由于奥利弗没有达到同龄婴儿应有的发育里程碑，他被送去做脑电图（EEG）检查，这是一种非侵入性检查，使用放置在头皮上的传感器记录大脑活动。

“检查结果似乎有点异常，但仍在正常范围内。一个月后，他出现了婴儿痉挛症。我抱着他的时候，他的胳膊和腿反复抽搐。我数了一下，至少有20次。他被送去做了脑电图和扫描。最终确诊为婴儿痉挛症，并接受了类固醇治疗，”Leow说道。

Soh先生说，他儿子的类固醇治疗被突然停止，而不是逐渐减量，导致痉挛复发。他儿子的第一个生日是在医院度过的。

一年多来，这家人一直在寻找答案，最终在新加坡国立大学医院 (NUH) 为 Oliver 进行基因组检测后找到了答案。

2024 年 5 月，奥利弗 15 个月大时，被诊断出患有原发性辅酶 Q10 (CoQ10) 缺乏症，这是一种罕见的遗传性疾病，由基因突变引起，会破坏人体产生足够这种天然物质的能力，而这种物质对细胞能量和保护至关重要。

“我记得当时我们俩坐在停车场里哭。那时我就知道奥利弗的保险失效了。但我们夫妻俩决定尽一切努力让儿子过上最好的生活，”苏说道。

细胞能量产生受阻

新加坡国立大学医院的遗传学家陈慧琳解释说，辅酶Q10相关疾病在新生儿身上没有明显的生化特征，因此无法通过国家新生儿筛查计划检测出来。

她指出，原发性辅酶Q10缺乏症极其罕见，属于一类特定的线粒体疾病，会损害细胞能量和保护能力。

“总体而言，这种疾病的患病率约为十万分之一。而对于辅酶Q10来说，这又是其中更为罕见的一个子集，”Chin说道。

“奥利弗被检测出的这种特定突变是东亚创始人变异，这意味着它仅在东亚和东南亚人（特别是中国南方人群）中发现。”

新加坡国立大学医院邱德拔儿童医学研究所的儿科神经科医生王芙琳说：“奥利弗的大脑尤其缺乏辅酶Q10。他的缺乏会导致发育迟缓、喂养困难和癫痫。

“我们也在监测他的其他器官，因为（这种疾病）会影响他的听力、视力，有时还会影响他的心脏和肾脏。这些器官都非常依赖线粒体，需要大量的能量。”

新加坡国立大学医院儿科神经科医生王芙琳（左）和遗传学家陈慧琳与患有原发性辅酶Q10缺乏症的Oliver Soh合影。原发性辅酶Q10缺乏症是一种罕见的遗传性疾病，由COQ4基因突变引起。（海峡时报摄影：BRIAN TEO）

新加坡国立大学医院的儿科神经科医生王芙琳（左）和遗传学家陈慧琳与患有原发性辅酶 Q10 缺乏症的 Oliver Soh 合影，这是一种罕见的遗传性疾病，由 COQ4 基因突变引起。

为了控制他的病情，医生给他开了含有超高剂量辅酶Q10的补充剂，“这对于补充他体内的辅酶Q10不足至关重要”。

王教授说：“难点在于辅酶Q10实际上无法穿过血脑屏障。即使血液中辅酶Q10含量很高，也不一定意味着大脑中含量也很高。从这个意义上讲，很难检测大脑中的辅酶Q10含量。但我们仍然会测量血液中的辅酶Q10含量，将其作为替代指标。”

血脑屏障是由细胞构成的保护性边界，它将循环血液与脑脊液分隔开来，允许水、氧气和葡萄糖等重要营养物质进入大脑，同时阻止有害毒素、细菌和大分子进入大脑。

王医生表示，虽然这种补充剂是治疗这种疾病的方法之一，但它并不能治愈这种疾病，因为它不能替代有缺陷的基因；它只是提高了辅酶Q10的水平。

“研究表明，它有助于控制癫痫发作。它甚至可能有助于预防某些器官功能障碍，例如心脏功能障碍。这实际上是奥利弗的主要治疗方案。他同时也在服用抗癫痫药物。”

王医生说：“他每次癫痫发作严重时，都会影响他的发育和进步。只有在服用开浦兰控制住病情后，我们才开始看到他在社交和运动技能方面有所改善。”

治疗的另一大支柱是多学科护理，包括治疗师、营养师和喂养诊所——所有这些利益相关者都为他的康复做出了巨大贡献。

从那以后，奥利弗的癫痫发作得到了更好的控制，他的发育里程碑也不断达成，包括能够扶着东西坐起来和站起来，能够独立伸手去拿东西，能够呼唤家人，并且反应也越来越灵敏。

治疗罕见疾病的费用很高

Keltonn Soh正在喂儿子Oliver吃牛油果泥和香蕉泥当晚餐。（海峡时报摄影：BRIAN TEO）

Keltonn Soh 正在给儿子 Oliver 喂牛油果泥和香蕉当晚餐。

在新加坡，治疗患有罕见疾病的儿童可能费用昂贵，每月费用从 2,000 美元到超过 24,000 美元不等，尤其是在需要特殊药物或基因疗法的情况下。

“像我们这样的中等收入家庭，看起来收入似乎不足以申请补贴，但照顾奥利弗仍然需要承担巨大的长期费用。我们努力工作，正是因为我们需要为他创造一个安全的未来，尤其是在我们可能无法继续照顾他的时候，”苏说道。

“药物、看多位专科医生和治疗师的费用，以及各种检查——这些都很昂贵。这是我们余生都必须承担的费用，而且不幸的是，没有任何补贴，”廖补充道。

但他们一致认为，为了奥利弗的健康，再多的钱也不算多。

“每个孩子都有记录成长里程碑和生日庆祝活动的视频和照片，但当我翻看手机里的回忆时，我看到的却是奥利弗在医院里的照片。就连苹果回忆功能都会自动创建一个他在医院的相册。”

“作为他的母亲，我感到非常痛苦，”廖女士说着，泪流满面。

“这就是为什么我们希望两个儿子都能享受童年。我们也不想让大儿子利亚姆的童年受到任何影响。我们每年都会带他们出国旅行，尽管这在后勤方面是个噩梦。如果苹果手机上的‘回忆’功能生成的回忆如此糟糕，我们可以为他们创造更好的回忆，”苏补充道。

Judith Tan是《海峡时报》的健康记者。

ST 医学谜案

国立大学医院