岩藻糖苷酶病是一种罕见的常染色体隐性遗传溶酶体贮积病(LSD),归因于FUCA1变体,导致体内α-L-岩藻糖苷酶缺乏。α-L-岩藻糖苷酶缺乏会导致岩藻糖基化糖蛋白和糖脂的过度积累,最终导致所有组织系统功能障碍,并出现多种症状。岩藻病是一种罕见的疾病,全世界已报道约120例(Wang,L.等。,JIntMedRes48,1-6,2020)。中国报告的病例数不超过10例(张,X.etal.,J国际医学报告49:3000605211005975,2021)。
患者是一名8岁的中国男孩,他在出生后表现为运动迟缓,智力残疾,身材矮小,语言发育迟缓,粗糙的面部特征,肝肿大,和两个手掌的弥漫性血管角化瘤。他的基因测试表明在FUCA1基因中存在纯合致病变体(c.671delC)。此外,α-L-岩藻糖苷酶的酶活性较低。最终,患者被诊断为岩藻毒素病。
岩藻糖苷酶是一种罕见的溶酶体贮积病,因为FUCA1变异体会导致体内α-L-岩藻糖苷酶缺乏。明确的诊断需要结合临床表现,影像学检查,基因检测和酶活性分析。早期诊断在岩藻病中起重要作用。
Fucosidosis is one of the rare autosomal recessive lysosomal storage diseases (LSDs) attributed to FUCA1 variants causing the deficiency of α-L-fucosidase in vivo. Α-L-fucosidase deficiency will cause excessive accumulation of fucosylated glycoproteins and glycolipids, which eventually leads to dysfunction in all tissue systems and presents with multiple symptoms. Fucosidosis is a rare disease which is approximately 120 cases have been reported worldwide (Wang, L. et al., J Int Med Res 48, 1-6, 2020). The number of reported cases in
China is no more than 10 (Zhang, X. et al., J Int Med Res 49:3000605211005975, 2021).
The patient was an 8-year-old Chinese boy who presented with postnatal motor retardation, intellectual disability, short stature, language development retardation, coarse facial features, hepatomegaly, and diffuse angiokeratoma of both palms. His genetic testing showed the presence of a homozygous pathogenic variant (c.671delC) in the FUCA1 gene. In addition, the enzymatic activity of α-L-fucosidase was low. Ultimately, the patient was diagnosed with fucosidosis.
Fucosidosis is a rare lysosomal storage disease because of FUCA1 variants that cause the deficiency of α-L-fucosidase in vivo. An explicit diagnosis requires a combination of clinical manifestations, imaging examination, genetic testing and enzyme activity analysis. Early diagnosis plays an important role in fucosidosis.