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2-Hydroxyglutric Aciduria (D and L Form)
smpdb.ca/view/SMP0000136DiseaseA deficiency in this enzyme results in accumulation of D-2-Hydroxyglutaric acid in plasma, spinal fluid, and urine; oxoglutaric acid in urine; and gabba-aminobutyric acid in spinal fluid. … L-2-Hydroxyglutaric Aciduria (D-2-Hydroxyglutaric Aciduria ) is an autosomal recessive disease caused by a mutation in the L2HGDH gene which codes for L-2-Hydroxygluarate dehydrogenase.
Drugs: Pyridoxal phosphate · Pyruvic acid · Biotin · Aspartic acid · L-Glutamine · Adenosine phosphate +17 more4-Hydroxybutyric Aciduria/Succinic Semialdehyde Dehydrogenase Deficiency
smpdb.ca/view/SMP0125784Disease4-Hydroxybutyric Aciduria/Succinic Semialdehyde Dehydrogenase Deficiency (SSADH; Gamma-hydroxybutyric acidemia) inhibits the formation of succinate from GABA. … This deficiency results in urinary excretion of 4-hydroxybutyric acid. In vivo proton MR also indicates elevated GABA levels as compared with an age-matched control.
Drugs: Pyridoxal phosphate · Pyruvic acid · Biotin · Aspartic acid · L-Glutamine · Adenosine phosphate +17 more4-Hydroxybutyric Aciduria/Succinic Semialdehyde Dehydrogenase Deficiency
smpdb.ca/view/SMP0000243Disease4-Hydroxybutyric Aciduria/Succinic Semialdehyde Dehydrogenase Deficiency (SSADH; Gamma-hydroxybutyric acidemia) inhibits the formation of succinate from GABA. … This deficiency results in urinary excretion of 4-hydroxybutyric acid. In vivo proton MR also indicates elevated GABA levels as compared with an age-matched control.
Drugs: Pyridoxal phosphate · Pyruvic acid · Biotin · Aspartic acid · L-Glutamine · Adenosine phosphate +17 moreGlutamate Metabolism
smpdb.ca/view/SMP0000072MetabolicGlutamate is one of the non-essential amino acids that is produced by the body. Glutamate is precursor for many nucleic acids and proteins in addition to its role in the central nervous system. … Dysfunctional glutamate metabolism may cause disorders such as: gyrate atrophy, hyperammonemia, γ-hydoxybutyric aciduria, hemolytic anemia, and 5-oxoprolinuria.
Drugs: Pyridoxal phosphate · Pyruvic acid · Biotin · Aspartic acid · L-Glutamine · Adenosine phosphate +17 moreSuccinic Semialdehyde Dehydrogenase Deficiency
smpdb.ca/view/SMP0000567DiseaseWith reduced GABA activity, oxidation of succinic semialdehyde (SSA) to succinic acid is impaired causing a build up of SSA and ultimately it’s downstream metabolite γ-hydroxybutyric acid (GHB). … Succinic Semialdehyde Dehydrogenase (SSADH) deficiency is a rare autosomal recessive inherited disorder affecting the metabolism of γ-aminobutyric acid (GABA).
Drugs: Pyridoxal phosphate · Pyruvic acid · Biotin · Aspartic acid · L-Glutamine · Adenosine phosphate +17 moreHyperinsulinism-Hyperammonemia Syndrome
smpdb.ca/view/SMP0125787DiseaseHyperinsulinism-hyperammonemia syndrome (HHS; Glutamate dehydrogenase 1; GLUD1), an inherited condition, is caused by a defect in the GLUD1 gene which codes for mitochondrial glutamate dehydrogenase 1. It is a mitochondrial matrix enzyme...
Drugs: Pyridoxal phosphate · Pyruvic acid · Biotin · Aspartic acid · L-Glutamine · Adenosine phosphate +17 moreNLX-P101
go.drugbank.com/drugs/DB05924ExperimentalThe gene is glutamic acid decarboxylase (GAD), whose product synthesizes the major inhibitory neurotransmitter in the brain, (gamma)-aminobutyric acid (GABA), and targets the subthalamic nucleus (STN),
Hyperinsulinism-Hyperammonemia Syndrome
smpdb.ca/view/SMP0000339DiseaseHyperinsulinism-hyperammonemia syndrome (HHS; Glutamate dehydrogenase 1; GLUD1), an inherited condition, is caused by a defect in the GLUD1 gene which codes for mitochondrial glutamate dehydrogenase 1. It is a mitochondrial matrix enzyme...
Drugs: Pyridoxal phosphate · Pyruvic acid · Biotin · Aspartic acid · L-Glutamine · Adenosine phosphate +17 moreZuranolone
go.drugbank.com/drugs/DB15490ApprovedInvestigationalZuranolone is a neuroactive steroid that acts as a positive allosteric modulator of the GABAA receptors. Unlike other more common GABAA positive allosteric modulators on the market like benzodiazepines, zuranolone can modulate both synap...
Categories: Neuroactive Steroid Gamma-Aminobutyric Acid A Receptor Positive ModulatorAutophagy
smpdb.ca/view/SMP0578913SignalingAutophagy is a highly conserved, multistep lysosomal degradation pathway that plays a central role in cellular homeostasis by sequestering cytoplasmic proteins, damaged organelles, and macromolecules into double‑membrane autophagosomes f...
Enzymes: Gamma-aminobutyric acid receptor-associated protein, Gamma-aminobutyric acid receptor-associated protein-like 2