Dr. Sami Ulus Obstetrics and Gynecology, Children Health and Disease Training and Research Hospital, Department of Medical Genetics, Ankara, Turkey.
Dr. Sami Ulus Obstetrics and Gynecology, Children Health and Disease Training and Research Hospital, Department of Pediatric Gastroenterology, Hepatology and Nutrition, Ankara, Turkey.
Hormones (Athens). 2021 Sep;20(3):581-585. doi: 10.1007/s42000-020-00252-4. Epub 2020 Nov 7.
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.
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).
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.
转醛醇酶（TALDO）缺乏症（OMIM#606003）是一种罕见的常染色体隐性多系统碳水化合物代谢紊乱疾病。其表型谱广泛，从新生儿肝衰竭到缓慢进展性肝硬化，其特征为宫内生长受限、肝脾肿大、双细胞减少、肾结石和先天性心脏病。
我们报告了一例 TALDO 缺乏症的迟发型病例，其特征为高促性腺激素性性腺功能减退和甲胎蛋白（AFP）水平略有升高。通过应用临床外显子组测序（CES）进行反向遗传学检测，发现了一种新的 TALDO1 突变。
本报告进一步证明，在不表现出已知和可识别综合征典型特征的患者中，反向遗传学是一种有用的方法。对于不明原因的 AFP 水平升高和伴有微结石的高促性腺激素性性腺功能减退症，应考虑 TALDO 缺乏症的鉴别诊断。
