Gene: ALDH5A1

Alternate names for this Gene: SSADH|SSDH

Gene Summary: This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6p22.3

Description of this Gene: aldehyde dehydrogenase 5 family member A1

Type of Gene: protein-coding

rs150674717 in ALDH5A1 gene and Alkaline phosphatase measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs116417499 in ALDH5A1 gene and Crohn Disease PMID 30801121 2019 The Unsolved Link of Genetic Markers and Crohn's Disease Progression: A North American Cohort Experience.

rs778127154 in ALDH5A1 gene and Movement Disorders PMID 7726383 1994 4-Hydroxybutyric aciduria.

PMID 19172412 2009 Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men.

PMID 12743223 2003 Clinical spectrum of succinic semialdehyde dehydrogenase deficiency.

PMID 16298354 2005 Inherited disorders of neurotransmitters in children and adults.

PMID 27268762 2016 Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.

PMID 26268900 2015 Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.

rs778127154 in ALDH5A1 gene and Muscle hypotonia PMID 16298354 2005 Inherited disorders of neurotransmitters in children and adults.

PMID 26268900 2015 Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.

PMID 12743223 2003 Clinical spectrum of succinic semialdehyde dehydrogenase deficiency.

PMID 19172412 2009 Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men.

PMID 7726383 1994 4-Hydroxybutyric aciduria.

PMID 27268762 2016 Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.

rs778127154 in ALDH5A1 gene and Overgrowth PMID 27268762 2016 Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.

PMID 7726383 1994 4-Hydroxybutyric aciduria.

PMID 12743223 2003 Clinical spectrum of succinic semialdehyde dehydrogenase deficiency.

PMID 19172412 2009 Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men.

PMID 26268900 2015 Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.

PMID 16298354 2005 Inherited disorders of neurotransmitters in children and adults.

rs118203982 in ALDH5A1 gene and succinic semialdehyde dehydrogenase deficiency PMID 26964512 2019 Psychomotor delay, hypotonia, and behavioural disorders: A case of succinic semialdehyde dehydrogenase deficiency.

PMID 14635103 2003 Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.

PMID 11243727 2001 Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.

PMID 23519317 2013 Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

PMID 11901270 2002 Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T > A of the ALDH5A1 gene.

PMID 28664505 2017 SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site.