Neonatal transaldolase deficiency: a case report
10.3760/cma.j.cn113903-20220110-00033
- VernacularTitle:新生儿转醛醇酶缺乏症1例
- Author:
Yuanjing LI
1
;
Huayan ZHANG
;
Jin HAN
;
Xiuzhen LI
;
Xiaopeng ZHAO
Author Information
1. 广州市妇女儿童医疗中心新生儿科，广州 510623
- Keywords:
Carbohydrate metabolism, inborn error;
Transaldolase;
Pentose phosphate pathway;
Infant, newborn
- From:
Chinese Journal of Perinatal Medicine
2022;25(4):294-297
- CountryChina
- Language:Chinese
-
Abstract:
We report a neonate with transaldolase deficiency caused by compound heterozygous variation of the TALDO1 gene. A pregnant woman, who had an adverse pregnancy history, was found with multiple fetal abnormalities on prenatal ultrasound and the following whole exon sequencing indicated a likely pathogenic heterozygous variation of c.462-2A>G and c.574C>T(p.R192C) in TALDO1 gene in the fetus. A body was born at 38 +1 weeks and presented dysmorphic features (cutis laxa/wrinkled skin and low-set ears, etc.), splenomegaly, anemia, abnormal liver function and coagulation. In combination with the prenatal testing results, transaldolase deficiency was diagnosed. The patients still had cutis laxa/wrinkled skin on the back of both hands and neck at one year and three months old. Therefore, for babies with hepatosplenomegaly, anemia, thrombocytopenia, coagulation dysfunction, at the same time with dysmorphic features such as cutis laxa, low-set ears, attention should be paid to the investigation of transaldolase deficiency.
