Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a rare disorder of hepatic long-chain fatty acid oxidation. Most patients with CPT1A deficiency present with hypoketotic hypoglycemia and hepatic encephalopathy. We present an atypical case of an 8-year-old male with CPT1A deficiency, developmental delay, autistic spectrum disorder and liver cirrhosis. His newborn screening test suggested CPT1A deficiency but confirmatory biochemical testing was not conclusive. The patient never experienced a metabolic crisis. At age six, hepatomegaly was detected. Further investigations showed transaminitis, hepatosteatosis and cirrhosis. Repeat acylcarnitine profile and total/free carnitine were consistent with CPT1A deficiency. The CPTI enzyme activity was 18% of normal on fibroblast enzyme assay. A novel homozygous variant in the CPT1A gene, c.1394G > A (p.G465E), was identified from whole exome sequencing. To our knowledge, the patient is the first reported individual with CPT1A deficiency and chronic liver steatosis and fibrosis. Developmental delay and autistic spectrum disorder are not typical features of CPT1A deficiency given that the patient never experienced any metabolic decompensation.

肉碱棕榈酰转移酶1A（CPT1A）缺乏症是一种罕见的肝长链脂肪酸氧化疾病。CPT1A缺乏症的大多数患者表现为低酮症性低血糖和肝性脑病。我们介绍了一个非典型病例，其中一名CPT1A缺乏，发育迟缓，自闭症谱系障碍和肝硬化的8岁男性。他的新生儿筛查测试提示CPT1A缺乏，但不确定的生化测试尚无定论。该患者从未经历过代谢危机。在六岁时，检测到肝肿大。进一步的调查显示，有氨基甲酸酯炎，肝脂肪变性和肝硬化。重复的酰基肉碱轮廓和总/游离肉碱与CPT1A缺乏症一致。在成纤维细胞酶测定中，CPTI酶活性为正常的18％。一本小说从整个外显子组测序中鉴定出CPT1A基因的纯合变异体c.1394G> A（p.G465E）。据我们所知，该患者是首次报告患有CPT1A缺乏症和慢性肝脂肪变性和纤维化的患者。鉴于患者从未经历任何代谢失代偿，因此发育迟缓和自闭症谱系障碍不是CPT1A缺乏症的典型特征。