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Literature summary for 1.2.1.24 extracted from

  • Brown, M.N.; Walters, D.C.; Schmidt, M.A.; Hill, J.; McConnell, A.; Jansen, E.E.W.; Salomons, G.S.; Arning, E.; Bottiglieri, T.; Gibson, K.M.; Roullet, J.B.
    Maternal glutamine supplementation in murine succinic semialdehyde dehydrogenase deficiency, a disorder of gamma-aminobutyric acid metabolism (2019), J. Inherit. Metab. Dis., 42, 1030-1039 .
    View publication on PubMed
Search for more literature for 1.2.1.24

Protein Variants

Protein Variants Comment Organism
additional information aldh5a1-/- (SSADHD) mice and their genetic controls (aldh5a1+/+) are exposed to either a 4% (w/w) glutamine-containing diet or a glutamine-free diet from conception until postnatal day 30. The test diet increases hepatic glutamate in both genotypes, decreases glutamine in aldh5a1+/+ but not in aldh5a1-/-, but has no effect on GABA. Dried bloodspot analyses show significantly elevated GABA in mutants (approximately 800% above controls) and decreased glutamate (approximately 25%), but no glutamine difference with controls. Glutamine supplementation does not impact blood GABA but significantly increased glutamine and glutamate in both genotypes indicating systemic exposure to dietary glutamine. Ataxia and pronounced hyperactivity are observed in aldh5a1-/- mice but remain unchanged by the diet intervention. Glutamine supplementation improves peripheral but not central glutamine deficiency in experimental SSADHD. Murine SSADHD presents with dramatic changes in amino acid levels including a significant elevation in brain GABA, one of the major inhibitory neurotransmitters, a moderate increase in excitatory neurotransmitter glutamate, and a very significant decrease in brain glutamine, the metabolic precursor of glutamate. Phenotype, overview Mus musculus

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
succinate semialdehyde + NAD+ + H2O Mus musculus
-
 succinate + NADH + 2 H+
-
 ?
succinate semialdehyde + NAD+ + H2O Mus musculus C57BL/6
-
 succinate + NADH + 2 H+
-
 ?

Organism

Organism UniProt Comment Textmining
Mus musculus Q8BWF0
-
-
Mus musculus C57BL/6 Q8BWF0
-
-

Source Tissue

Source Tissue Comment Organism Textmining
brain
-
 Mus musculus
-
liver
-
 Mus musculus
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
succinate semialdehyde + NAD+ + H2O
-
 Mus musculus succinate + NADH + 2 H+
-
 ?
succinate semialdehyde + NAD+ + H2O
-
 Mus musculus C57BL/6 succinate + NADH + 2 H+
-
 ?

Synonyms

Synonyms Comment Organism
SSADH
-
 Mus musculus
succinic semialdehyde dehydrogenase
-
 Mus musculus

Cofactor

Cofactor Comment Organism Structure
NAD+
-
 Mus musculus

General Information

General Information Comment Organism
malfunction succinic semialdehyde dehydrogenase (SSADH) deficiency (SSADHD) is a heritable disorder of gamma-aminobutyric acid (GABA) metabolism associating with elevated GABA and gamma-hydroxybutyrate (GHB). The heterogeneous phenotype ranges from mild to severe, including developmental delay, movement abnormalities, neuropsychiatric morbidity, and seizures murine succinic semialdehyde dehydrogenase deficiency (SSADHD) manifests with high concentrations of gamma-aminobutyric acid (GABA) and gamma-hydroxybutyrate (GHB) and low glutamine in the brain Mus musculus