Background

Transaldolase (TALDO) deficiency (OMIM #606003) is a rare autosomal recessive multi-systemic disorder of carbohydrate metabolism. It has a vast phenotypic spectrum ranging from neonatal liver failure to slowly progressive liver cirrhosis and is characterized by intrauterine growth restriction, hepatosplenomegaly, bicytopenia, nephrolithiasis, and congenital heart disease.

Methods and results

We report a patient with a late-onset form of TALDO deficiency characterized by hypergonadotropic hypogonadism and slightly elevated levels of alpha-fetoprotein (AFP). A novel TALDO1 mutation was detected through the application of reverse genetics with the use of clinical exome sequencing (CES).

Conclusion

This report provides further evidence that reverse genetics is a useful approach in patients who do not manifest the hallmark features of known and recognizable syndromes. TALDO deficiency should be considered in the differential diagnosis of unexplained elevated AFP levels and hypergonadotropic hypogonadism with microlithiasis.

中文翻译：

---

转醛酶缺乏症患者的高促性腺激素性性腺功能减退症：磷酸戊糖途径的新突变

背景

转醛醇酶 (TALDO) 缺乏症 (OMIM #606003) 是一种罕见的常染色体隐性遗传多系统碳水化合物代谢疾病。它具有广泛的表型谱，从新生儿肝衰竭到缓慢进展的肝硬化，其特点是宫内生长受限、肝脾肿大、双细胞减少、肾结石和先天性心脏病。

方法和结果

我们报告了一名迟发性 TALDO 缺乏症患者，其特征是高促性腺激素性腺功能减退症和甲胎蛋白 (AFP) 水平略微升高。通过使用临床外显子组测序 (CES) 应用反向遗传学检测到一种新的 TALDO1 突变。

结论

该报告提供了进一步的证据，表明反向遗传学对于没有表现出已知和可识别综合征的标志性特征的患者是一种有用的方法。在不明原因的 AFP 水平升高和高促性腺激素性性腺功能减退伴微石症的鉴别诊断中应考虑 TALDO 缺乏症。