succinic semialdehyde dehydrogenase deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our study expands the mutation spectrum of ALDH5A1 and highlights the importance of molecular genetic evaluation in patients with SSADH deficiency.
|
31117962 |
2019 |
succinic semialdehyde dehydrogenase deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare autosomal recessive disorder of γ-aminobutyric acid (GABA) catabolism caused by mutations in the gene coding for succinic semialdehyde dehydrogenase (ALDH5A1).
|
31267348 |
2019 |
succinic semialdehyde dehydrogenase deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
We present a patient with Rett syndrome (RTT; MECP2) and autosomal-recessive succinic semialdehyde dehydrogenase deficiency (SSADHD; ALDH5A1 (aldehyde dehydrogenase 5a1 = SSADH), in whom the current phenotype exhibits features of SSADHD (hypotonia, global developmental delay) and RTT (hand stereotypies, gait anomalies).
|
30829465 |
2019 |
succinic semialdehyde dehydrogenase deficiency
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Psychomotor delay, hypotonia, and behavioural disorders: A case of succinic semialdehyde dehydrogenase deficiency.
|
26964512 |
2019 |
succinic semialdehyde dehydrogenase deficiency
|
0.800 |
Biomarker
|
disease |
CTD_human |
Toxicologic/transport properties of NCS-382, a γ-hydroxybutyrate (GHB) receptor ligand, in neuronal and epithelial cells: Therapeutic implications for SSADH deficiency, a GABA metabolic disorder.
|
29031482 |
2018 |
succinic semialdehyde dehydrogenase deficiency
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site.
|
28664505 |
2017 |
succinic semialdehyde dehydrogenase deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ALDH5A1 gene result in the abnormal accumulation of γ-hydroxybutyrate (GHB), which is pathognomonic of SSADHD.
|
28664505 |
2017 |
succinic semialdehyde dehydrogenase deficiency
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
succinic semialdehyde dehydrogenase deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Numerous metabolic perturbations unmasked in SSADHD include alterations in oxidative stress parameters, dysregulation of autophagy and mitophagy, dysregulation of both inhibitory and excitatory neurotransmitters and gene expression, and unique subsets of SNP alterations of the SSADH gene (so-called ALDH5A1, or aldehyde dehydrogenase 5A1 gene) on the 6p22 chromosomal arm.
|
27311541 |
2016 |
succinic semialdehyde dehydrogenase deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A study in 2003 described 35 mutations of ALDH5A1 in 54 unrelated families, and the current study and systematic literature review identified nine additional novel mutations in eight unrelated families bringing the total number of unique mutations of ALDH5A1 resulting in SSADH deficiency to 44, and the 44 mutations occur from exon 1 to exon 10.
|
25431891 |
2016 |
succinic semialdehyde dehydrogenase deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Succinic Semialdehyde Dehydrogenase Deficiency in a Chinese Boy: A Novel ALDH5A1 Mutation With Severe Phenotype.
|
25122112 |
2015 |
succinic semialdehyde dehydrogenase deficiency
|
0.800 |
Biomarker
|
disease |
CTD_human |
Discovery of a series of aromatic lactones as ALDH1/2-directed inhibitors.
|
25641190 |
2015 |
succinic semialdehyde dehydrogenase deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We described a boy with a severe phenotype of succinic semialdehyde dehydrogenase deficiency and novel mutations of ALDH5A1 gene.
|
25246302 |
2015 |
succinic semialdehyde dehydrogenase deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family.
|
23825041 |
2013 |
succinic semialdehyde dehydrogenase deficiency
|
0.800 |
Biomarker
|
disease |
CTD_human |
A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family.
|
23825041 |
2013 |
succinic semialdehyde dehydrogenase deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
Inherited deficiency of SSADH results in accumulation of the neuromodulator γ-hydroxybutyrate (GHB), which likely contributes to some aspects of the neurological phenotype of SSADH deficiency (MIM #271980).
|
21438145 |
2011 |
succinic semialdehyde dehydrogenase deficiency
|
0.800 |
Biomarker
|
disease |
CTD_human |
[Succinic semialdehyde dehydrogenase deficiency: decrease in 4-OH-butyric acid levels with low doses of vigabatrin].
|
20018576 |
2010 |
succinic semialdehyde dehydrogenase deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
Therapeutic concepts in patients with SSADH deficiency and preclinical therapeutic experiments are discussed in light of data collected from research in Aldh5a1-/- mice and animal studies of GHB pharmacology; these studies are the foundation for novel working approaches, including pharmacological and dietary trials, which are presented for future evaluation in this disease.
|
17457693 |
2007 |
succinic semialdehyde dehydrogenase deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Diagnosis of SSADH deficiency in our patient was established by demonstration of absent enzyme activity in isolated leucocytes, and was associated with a novel missense mutation (c.587G>A; p.Gly196Asp) in the SSADH coding sequence.
|
16545979 |
2006 |
succinic semialdehyde dehydrogenase deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
Elucidation of the precise fundamental mechanisms of the perturbation of the GABA(A)R-mediated function in SSADH(-/-) mice could lead to the development of novel treatment modalities designed to reduce the neurological morbidity in children with SSADH deficiency.
|
16240371 |
2006 |
succinic semialdehyde dehydrogenase deficiency
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation.
|
16542398 |
2006 |
succinic semialdehyde dehydrogenase deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
One of these, succinate semialdehyde dehydrogenase (SSADH) deficiency (or gamma-hydroxybutyric aciduria; OMIM 271980; E.C.
|
16203683 |
2005 |
succinic semialdehyde dehydrogenase deficiency
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.
|
14635103 |
2003 |
succinic semialdehyde dehydrogenase deficiency
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.
|
14635103 |
2003 |
succinic semialdehyde dehydrogenase deficiency
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T > A of the ALDH5A1 gene.
|
11901270 |
2002 |