Page last updated: 2024-10-06

Succinic Semialdehyde Dehydrogenase Deficiency

Proteins (22)

ProteinSynonymsTaxonomy
Aspartate aminotransferase, mitochondrialmAspAT; EC 2.6.1.1; EC 2.6.1.7; Fatty acid-binding protein; FABP-1; Glutamate oxaloacetate transaminase 2; Kynurenine aminotransferase 4; Kynurenine aminotransferase IV; Kynurenine--oxoglutarate transaminase 4; Kynurenine--oxoglutarate transaminase IV; PlHomo sapiens (human)
Glutaminase liver isoform, mitochondrialGLS; EC 3.5.1.2; L-glutaminase; L-glutamine amidohydrolaseHomo sapiens (human)
Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrialP5C dehydrogenase; EC 1.2.1.88; Aldehyde dehydrogenase family 4 member A1; L-glutamate gamma-semialdehyde dehydrogenaseHomo sapiens (human)
Alanine aminotransferase 1ALT1; EC 2.6.1.2; Glutamate pyruvate transaminase 1; GPT 1; Glutamic--alanine transaminase 1; Glutamic--pyruvic transaminase 1Homo sapiens (human)
GMP synthase [glutamine-hydrolyzing] EC 6.3.5.2; GMP synthetase; Glutamine amidotransferaseHomo sapiens (human)
Glutamate decarboxylase 1EC 4.1.1.15; 67 kDa glutamic acid decarboxylase; GAD-67; Glutamate decarboxylase 67 kDa isoformHomo sapiens (human)
Glutathione reductase, mitochondrialGR; GRase; EC 1.8.1.7Homo sapiens (human)
4-aminobutyrate aminotransferase, mitochondrialEC 2.6.1.19; (S)-3-amino-2-methylpropionate transaminase; 2.6.1.22; GABA aminotransferase; GABA-AT; Gamma-amino-N-butyrate transaminase; GABA transaminase; GABA-T; L-AIBATHomo sapiens (human)
Glutamate--cysteine ligase regulatory subunitGCS light chain; Gamma-ECS regulatory subunit; Gamma-glutamylcysteine synthetase regulatory subunit; Glutamate--cysteine ligase modifier subunitHomo sapiens (human)
AmidophosphoribosyltransferaseATase; EC 2.4.2.14; Glutamine phosphoribosylpyrophosphate amidotransferase; GPATHomo sapiens (human)
Carbamoyl-phosphate synthase [ammonia], mitochondrialEC 6.3.4.16; Carbamoyl-phosphate synthetase I; CPSase IHomo sapiens (human)
Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1EC 2.6.1.16; D-fructose-6-phosphate amidotransferase 1; Glutamine:fructose-6-phosphate amidotransferase 1; GFAT 1; GFAT1; Hexosephosphate aminotransferase 1Homo sapiens (human)
CAD proteinHomo sapiens (human)
Glutamine--tRNA ligaseEC 6.1.1.18; Glutaminyl-tRNA synthetase; GlnRSHomo sapiens (human)
Glutamate--cysteine ligase catalytic subunitEC 6.3.2.2; GCS heavy chain; Gamma-ECS; Gamma-glutamylcysteine synthetaseHomo sapiens (human)
Glutathione synthetaseGSH synthetase; GSH-S; EC 6.3.2.3; Glutathione synthaseHomo sapiens (human)
Succinate-semialdehyde dehydrogenase, mitochondrialEC 1.2.1.24; Aldehyde dehydrogenase family 5 member A1; NAD(+)-dependent succinic semialdehyde dehydrogenaseHomo sapiens (human)
N-acetyl-D-glucosamine kinaseN-acetylglucosamine kinase; EC 2.7.1.59; GlcNAc kinaseHomo sapiens (human)
Glucosamine 6-phosphate N-acetyltransferaseEC 2.3.1.4; Phosphoglucosamine acetylase; Phosphoglucosamine transacetylaseHomo sapiens (human)
Glutamate dehydrogenase 1, mitochondrialGDH 1; EC 1.4.1.3Homo sapiens (human)
Probable glutamate--tRNA ligase, mitochondrialEC 6.1.1.17; Glutamyl-tRNA synthetase; GluRSHomo sapiens (human)
Glutamine synthetase Homo sapiens (human)

Compounds (36)

CompoundDescription
phosphoric acidconcise etchant is 37% H3PO4
hydronium ion
pyruvic acidAn intermediate compound in the metabolism of carbohydrates, proteins, and fats. In thiamine deficiency, its oxidation is retarded and it accumulates in the tissues, especially in nervous structures. (From Stedman, 26th ed)
Orthophosphate
succinic acidA water-soluble, colorless crystal with an acid taste that is used as a chemical intermediate, in medicine, the manufacture of lacquers, and to make perfume esters. It is also used in foods as a sequestrant, buffer, and a neutralizing agent. (Hawley's Condensed Chemical Dictionary, 12th ed, p1099; McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed, p1851)
gamma-aminobutyric acidThe most common inhibitory neurotransmitter in the central nervous system.
GlutathioneA tripeptide with many roles in cells. It conjugates to drugs to make them more soluble for excretion, is a cofactor for some enzymes, is involved in protein disulfide bond rearrangement and reduces peroxides.
ammonium hydroxideThe hydroxy salt of ammonium ion. It is formed when AMMONIA reacts with water molecules in solution.
Carbon DioxideA colorless, odorless gas that can be formed by the body and is necessary for the respiration cycle of plants and animals.
glutamic acidA non-essential amino acid naturally occurring in the L-form. Glutamic acid is the most common excitatory neurotransmitter in the CENTRAL NERVOUS SYSTEM.
NADH
cysteineA thiol-containing non-essential amino acid that is oxidized to form CYSTINE.
Adenosine TriphosphateAn adenine nucleotide containing three phosphate groups esterified to the sugar moiety. In addition to its crucial roles in metabolism adenosine triphosphate is a neurotransmitter.
glutamineA non-essential amino acid present abundantly throughout the body and is involved in many metabolic processes. It is synthesized from GLUTAMIC ACID and AMMONIA. It is the principal carrier of NITROGEN in the body and is an important energy source for many cells.
adenosine diphosphateAdenosine 5'-(trihydrogen diphosphate). An adenine nucleotide containing two phosphate groups esterified to the sugar moiety at the 5'-position.
adenosine monophosphateAdenine nucleotide containing one phosphate group esterified to the sugar moiety in the 2'-, 3'-, or 5'-position.
phosphoribosyl pyrophosphateThe key substance in the biosynthesis of histidine, tryptophan, and purine and pyrimidine nucleotides.
WaterA clear, odorless, tasteless liquid that is essential for most animal and plant life and is an excellent solvent for many substances. The chemical formula is hydrogen oxide (H2O). (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)
Coenzyme A
Adenosine Diphosphate RiboseAn ester formed between the aldehydic carbon of RIBOSE and the terminal phosphate of ADENOSINE DIPHOSPHATE. It is produced by the hydrolysis of nicotinamide-adenine dinucleotide (NAD) by a variety of enzymes, some of which transfer an ADP-ribosyl group to target proteins.
succinic semialdehydestructure
delta-1-pyrroline-5-carboxylate(L)-isomer is the biologically active form; RN given refers to cpd without isomeric designation; structure
gamma-glutamylcysteine
carbamyl phosphateThe monoanhydride of carbamic acid with PHOSPHORIC ACID. It is an important intermediate metabolite and is synthesized enzymatically by CARBAMYL-PHOSPHATE SYNTHASE (AMMONIA) and CARBAMOYL-PHOSPHATE SYNTHASE (GLUTAMINE-HYDROLYZING).
glucosamine 6-phosphateRN given refers to parent cpd
alpha-ketoglutaric acid
NADA coenzyme composed of ribosylnicotinamide 5'-diphosphate coupled to adenosine 5'-phosphate by pyrophosphate linkage. It is found widely in nature and is involved in numerous enzymatic reactions in which it serves as an electron carrier by being alternately oxidized (NAD+) and reduced (NADH). (Dorland, 27th ed)
alanineA non-essential amino acid that occurs in high levels in its free state in plasma. It is produced from pyruvate by transamination. It is involved in sugar and acid metabolism, increases IMMUNITY, and provides energy for muscle tissue, BRAIN, and the CENTRAL NERVOUS SYSTEM.
fructose-6-phosphateRN given refers to parent cpd with unspecified isomeric designation
xanthosine 5'-triphosphateRN given refers to parent cpd
oxaloacetic acidA dicarboxylic acid ketone that is an important metabolic intermediate of the CITRIC ACID CYCLE. It can be converted to ASPARTIC ACID by ASPARTATE TRANSAMINASE.
nicotinic acid adenine dinucleotideintermediate in the biosynthesis of NAD
N-acetylglucosamine 6-phosphate
acetyl coenzyme aAcetyl CoA participates in the biosynthesis of fatty acids and sterols, in the oxidation of fatty acids and in the metabolism of many amino acids. It also acts as a biological acetylating agent.
creolinfrom refined coal tar oils
pyrophosphate