Browsing Pathways

4-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. Symptoms include ataxia, chorea or athetosis, motor retardation, seizures, macrocephaly and delayed or abnormal speech development.

4-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. Symptoms include ataxia, chorea or athetosis, motor retardation, seizures, macrocephaly and delayed or abnormal speech development.

4-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. Symptoms include ataxia, chorea or athetosis, motor retardation, seizures, macrocephaly and delayed or abnormal speech development.

5-Deoxystrigol Biosynthesis is a pathway that has not yet become fully elucidated. Beginning in the chloroplast and potentially finishing in the cytosol, the pathway follows the synthesis of 5-deoxystrigol from beta-carotene. 5-Deoxystrigol is a strigolactone, a plant hormone that stimulates the branching and growth of symbiotic arbuscular mycorrhizal fungi and inhibits plant shoot branching. Strigolactones share a common C19 structure composed of a tricyclic lactone (A, B, and C rings) connected to a second lactone (D ring) by an enol ether bridge. 5-deoxystrigol is the precursor of other beta-oriented C-ring strigolactones (strigol-configured strigolactones) (PMID: 25425668). First, beta-carotene isomerase catalyzes the conversion of beta-carotene into 9-cis-beta-carotene with the help of an iron cofactor. Second, 9-cis-beta-carotene 9',10'-cleavage dioxygenase converts 9-cis-beta-carotene and oxygen to 9-cis-10'-apo-beta-carotenal and beta-ionone with the help of an Fe2+ cofactor. Third, carlactone synthase converts 9-cis-10'-apo-beta-carotenal and oxygen to carlactone and (2E,4E,6E)-7-hydroxy-4-methylhepta-2,4,6-trienal with the help of an Fe2+ cofactor. The final two reactions are not completely understood and may occur in the cytosol. Cytochrome P450 monooxygenase is theorized to catalyze the fourth reaction whereby carlactone is conveted into carlactone carboxylate. It requires heme as a cofactor. This same enzyme could possibly also catalyze the fifth reaction in which 5-deoxystrigol is made.

5-Oxoprolinase deficiency, also called OPLAHD, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of glutathione metabolism caused by a defective 5-oxoprolinase. 5-Oxoprolinase catalyzes the conversion of 5-oxoproline into glutamate which is an important neurotransmitter. This disorder is characterized by a large accumulation of 5-oxoproline in the urine. Symptoms of the disorder include enterocolitis, mental retardation, kidney stone formation, and hypoglycemia. 5-Oxoprolinase deficiency has been reported in approximately 8 people.

5-Oxoprolinase deficiency, also called OPLAHD, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of glutathione metabolism caused by a defective 5-oxoprolinase. 5-Oxoprolinase catalyzes the conversion of 5-oxoproline into glutamate which is an important neurotransmitter. This disorder is characterized by a large accumulation of 5-oxoproline in the urine. Symptoms of the disorder include enterocolitis, mental retardation, kidney stone formation, and hypoglycemia. 5-Oxoprolinase deficiency has been reported in approximately 8 people.

5-Oxoprolinase deficiency, also called OPLAHD, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of glutathione metabolism caused by a defective 5-oxoprolinase. 5-Oxoprolinase catalyzes the conversion of 5-oxoproline into glutamate which is an important neurotransmitter. This disorder is characterized by a large accumulation of 5-oxoproline in the urine. Symptoms of the disorder include enterocolitis, mental retardation, kidney stone formation, and hypoglycemia. 5-Oxoprolinase deficiency has been reported in approximately 8 people.

5-Oxoprolinase deficiency, also called OPLAHD, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of glutathione metabolism caused by a defective 5-oxoprolinase. 5-Oxoprolinase catalyzes the conversion of 5-oxoproline into glutamate which is an important neurotransmitter. This disorder is characterized by a large accumulation of 5-oxoproline in the urine. Symptoms of the disorder include enterocolitis, mental retardation, kidney stone formation, and hypoglycemia. 5-Oxoprolinase deficiency has been reported in approximately 8 people.