• Home
  • Search Results
  • Succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses.

Succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses.

Gene (2015-07-30)
Xiyuan Li, Yuan Ding, Yupeng Liu, Yao Zhang, Jinqing Song, Qiao Wang, Mengqiu Li, Yaping Qin, Shangzhi Huang, Yanling Yang
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.

MATERIALS
Product Number
Brand
Product Description

Sigma-Aldrich
Ammonia solution, 7 N in methanol
Sigma-Aldrich
Pyruvic acid, 98%
Sigma-Aldrich
Ammonia, anhydrous, ≥99.98%
Sigma-Aldrich
Lactic acid solution, ACS reagent, ≥85%
Sigma-Aldrich
Lactic acid, 85%, FCC
Sigma-Aldrich
Lactic acid, meets USP testing specifications
Sigma-Aldrich
Lactic acid, natural, ≥85%
Sigma-Aldrich
Ammonia solution, 0.4 M in THF
Sigma-Aldrich
Ammonia solution, 0.4 M in dioxane
Sigma-Aldrich
Ammonia solution, 2.0 M in methanol
Sigma-Aldrich
DL-Lactic acid, 85 % (w/w), syrup
Sigma-Aldrich
Ammonia solution, 4 M in methanol
Sigma-Aldrich
Pyruvic acid, ≥97%, FG
Sigma-Aldrich
Pyruvic acid, natural, ≥95%, FG
Sigma-Aldrich
Ammonia solution, 2.0 M in isopropanol
Sigma-Aldrich
Pyruvic acid, 95%
Sigma-Aldrich
Ammonia-14N, 99.99 atom % 14N