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1                                              SSADH deficiency has a heterogeneous spectrum and requir
2                                              SSADH deficiency is associated with developmental delay,
3 dent epilepsy, GABA-transaminase deficiency, SSADH deficiency, and homocarnosinosis.
4 herited succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria) is one
5         Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare disorder characterized by an
6         Succinic semialdehyde dehydrogenase (SSADH) deficiency, a rare metabolic disorder of 4-aminob
7 d succinic semialdehyde (SSA) dehydrogenase (SSADH)) have been identified and studied, while the enzy
8 emialdehyde dehydrogenase (ALDH5A1, encoding SSADH deficiency is a defect of 4-aminobutyric acid (GAB
9 DH, suggesting that CHMSD can substitute for SSADH to generate succinate for cellular utilization.
10 at 4-hydroxybutyric aciduria, resulting from SSADH deficiency, is the result of genetic defects in th
11 may have therapeutic relevance for the human SSADH deficiency disease and GHB overdose and toxicity.
12 s the result of genetic defects in the human SSADH gene.
13                                           In SSADH deficiency, the accumulation of two neuroactive sp
14 ing disruption of the GABA/glutamine axis in SSADH(-/-) mouse brain, effective pharmacotherapeutic ap
15 s review will discuss therapeutic options in SSADH deficiency, on the basis of patient experience, an
16 present new evidence for oxidative stress in SSADH(-/-) mice, significant alterations of dopamine met
17              In the absence of intervention, SSADH(-/-) mice suffer 100% mortality at week 3 to 4 of
18                 Because of the deficiency of SSADH, the final enzyme of the GABA degradation pathway,
19                     The clinical features of SSADH deficiency include nonspecific neurologic manifest
20 n investigation of the molecular genetics of SSADH deficiency, we have utilized SSADH cDNA and genomi
21 hes, we developed a murine knockout model of SSADH deficiency.
22 ides CHMS, CHMSD can use SSA, a substrate of SSADH, suggesting that CHMSD can substitute for SSADH to
23                                          The SSADH(-/-) mouse may represent a useful model in which t
24 ences to identify two point mutations in the SSADH genes derived from four patients.
25 netics of SSADH deficiency, we have utilized SSADH cDNA and genomic sequences to identify two point m
26 d in the physiologic fluids of patients with SSADH deficiency, and forms the mainstay of diagnosis.