RESUMO
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.
RESUMO
Objective To assess the significance of screening for inherited metabolic diseases in the treatment and diagnosis of infantile cholestatic hepatopathy,and to analyze the biochemical changed character‐istics of patients who were diagnosed with gene mutations. Methods From January 2016 to January 2017,69 children who were diagnosed as intrahepatic cholestasis in the Pediatric Gastroenterology Department of Shengjing Hospital Affiliated to China Medical University were enrolled. The medical history,physical exami‐nation,biochemical test and genetic metabolism screening results were recorded. Results Sixty‐seven cases of 69 children made tandem mass spectrometry(MS/MS),gas chromatography‐mass spectrometry(GC/MS) or genetic testing. Compared with the normal hereditary metabolic disease screening group, the abnormal group had higher levels of alkaline phosphatase,total bilirubin,direct bilirubin,and total bile acid,the differ‐ence was statistically significant (P<0. 05). The most common abnormal in MS/MS were elevation of free carnitines and arginine,citrulline,methionine,and the most common abnormal in GC/MS were elevation of 3‐hydroxyl propionic acid,4‐hydroxyl phenyllactic acid,4‐hydroxyl phenylacetic acid. In 6 children with posi‐tive genetic test results,the MS/MS and GC/MS of 4 neonatal intrahepatic cholestasis caused by citrin defi‐ciency showed aminoacidemia(citrullinemia,tyrosinemia) and elevations of urine organic acids. Five muta‐tions of SLC25A13 gene were found in the neonatal intrahepatic cholestasis caused by citrin deficiency pa‐tients,including IVS6+5G >A,851del4,IVS11 +1G >A,851 854de and 852 855del. The main clinical manifestations of progressive familial intrahepatic cholestasis type 2 ( PFIC2) were cholestatic jaundice and pruritus,γ‐glutamyl transpeptidase was normal,and with the c. 667C>T defection in the ABCB11 gene. The TALDO1 gene mutation type of one transaldolase deficiency was c. 716G>A and c. 854dupA heterozygous mutation. Conclusion MS/MS and GC/MS play a vital role in the early identification of cholestasis caused by genetic and metabolic disorders. Genetic testing can provide accurate diagnosis for rare genetic metabolic diseases.