title: Succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses.
abstract: Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive disorder that affects the degradation of γ-aminobutyric acid (GABA). Only a few cases of SSADH deficiency have been documented in mainland China and prenatal diagnosis has not been performed. SSADH deficiency in four patients (three girls and one boy) from four unrelated Chinese families was detected by selective screening at the age of 50days to 1year. Four patients were admitted due to intractable seizures and psychomotor retardation. Their urine 4-hydroxybutyric acid was significantly elevated. Seven mutations in their ALDH5A1 gene were identified, of which the following six were novel: c.127-128insGGCCC (p.Q43Rfs*50), [corrected] c.615delT (p.F206Sfs*5), c.1313T>C (p.L438P), c.1568C>T (p.S523F), 1383-2delA and a 0.15-Mb deletion harboring ALDH5A1. Only one mutation, c.820C>T, had been previously reported. Three mothers of Patients 1-3 underwent amniocentesis during their third pregnancy and the fetuses were not affected by SSADH deficiency. Normal development and urine organic acid levels of the infants confirmed the prenatal diagnosis after birth.
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors.forename: Xiyuan
authors.initials: X
authors.lastname: Li
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors.forename: Yuan
authors.initials: Y
authors.lastname: Ding
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors.forename: Yupeng
authors.initials: Y
authors.lastname: Liu
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors.forename: Yao
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors.forename: Jinqing
authors.initials: J
authors.lastname: Song
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors.forename: Qiao
authors.initials: Q
authors.lastname: Wang
authors.affiliation: Similan Clinic, Beijing 100070, China.
authors.forename: Mengqiu
authors.initials: M
authors.lastname: Li
authors.affiliation: Similan Clinic, Beijing 100070, China.
authors.forename: Yaping
authors.initials: Y
authors.lastname: Qin
authors.affiliation: Similan Clinic, Beijing 100070, China; Department of Medical Genetics, Peking Union Medical College, Chinese Academy of Medical Sciences, WHO Collaborating Center for Community Control for Hereditary Diseases, Beijing 100730, China.
authors.forename: Shangzhi
authors.initials: S
authors.lastname: Huang
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China. Electronic address: yanlingy@vip.sina.com.
authors.forename: Yanling
authors.initials: Y
authors.lastname: Yang
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics* / Q000652:urine; D044466:Asian People / Q000235:genetics*; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics* / Q000652:urine; D005260:Female; D005333:Fetus / Q000473:pathology*; D006801:Humans; D006885:Hydroxybutyrates / Q000652:urine; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D017384:Sequence Deletion / Q000235:genetics; D050644:Succinate-Semialdehyde Dehydrogenase / Q000172:deficiency* / Q000235:genetics / Q000652:urine
chemical_list: D006885:Hydroxybutyrates; C111420:4-hydroxybutyric acid; C493643:ALDH5A1 protein, human; D050644:Succinate-Semialdehyde Dehydrogenase
keywords: 4-Hydroxybutyric aciduria; ALDH5A1 gene; Novel mutation; Prenatal diagnosis; Succinic semialdehyde dehydrogenase deficiency; γ-Aminobutyric acid (GABA)