Browsing Pathways

3-Phosphoglycerate dehydrogenase deficiency is a disorder of L-serine biosynthesis that is characterized by congenital microcephaly, psychomotor retardation, and seizures.The disorder is caused by homozygous or compound heterozygous or homozygous mutation in the gene encoding phosphoglycerate dehydrogenase on chromosome 1p12. Defects in the gene lead to a decrease of Glycine and Serine.

3-Phosphoglycerate dehydrogenase deficiency is a disorder of L-serine biosynthesis that is characterized by congenital microcephaly, psychomotor retardation, and seizures.The disorder is caused by homozygous or compound heterozygous or homozygous mutation in the gene encoding phosphoglycerate dehydrogenase on chromosome 1p12. Defects in the gene lead to a decrease of Glycine and Serine.

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-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-Oxoprolinuria (5-Oxoprolinase deficiency) is a result of a defect in the gamma-glutamyl cycle due to either 5-oxoprolinase or glutathione synthetase deficiency. In the case of glutathione synthetase deficiency, the glycine is not incorporated into gamma-glutamylcysteine. In the case of 5-oxoprolinase, however, pyroglutamic acid accumulates. Symptoms include anemia, mental retardation, metabolic acidosis, respiratory distress and urolithiasis.

5-Oxoprolinuria (5-Oxoprolinase deficiency) is a result of a defect in the gamma-glutamyl cycle due to either 5-oxoprolinase or glutathione synthetase deficiency. In the case of glutathione synthetase deficiency, the glycine is not incorporated into gamma-glutamylcysteine. In the case of 5-oxoprolinase, however, pyroglutamic acid accumulates. Symptoms include anemia, mental retardation, metabolic acidosis, respiratory distress and urolithiasis.

Acute intermittent porphyria (AIP), also called Swedish porphyria, is a rare inborn error of metabolism (IEM) and autosomal dominant disorder of heme biosynthesis caused by a defective HMBS gene. The HMBS gene codes for the protein hydroxymethylbilane synthase (porphobilinogen deaminase) which catalyzes the synthesis of porphobilinogen into hydroxymethylbilane. This disorder is characterized by a large accumulation of 5-aminolevulinic acid or porphobilinogen in both urine and serum. Most patients are asymptomatic between attacks. Symptoms of the disorder include abdominal pain, constipation, vomiting, hypertension, muscle weakness, seizures, delirium, coma, and depression. Treatment involves undertaking a high-carbohydrate diet and, during severe attacks, a glucose 10% infusion. It is estimated that AIP affects 5.9 per 1 000 000 people.

Acute intermittent porphyria (AIP), also called Swedish porphyria, is a rare inborn error of metabolism (IEM) and autosomal dominant disorder of heme biosynthesis caused by a defective HMBS gene. The HMBS gene codes for the protein hydroxymethylbilane synthase (porphobilinogen deaminase) which catalyzes the synthesis of porphobilinogen into hydroxymethylbilane. This disorder is characterized by a large accumulation of 5-aminolevulinic acid or porphobilinogen in both urine and serum. Most patients are asymptomatic between attacks. Symptoms of the disorder include abdominal pain, constipation, vomiting, hypertension, muscle weakness, seizures, delirium, coma, and depression. Treatment involves undertaking a high-carbohydrate diet and, during severe attacks, a glucose 10% infusion. It is estimated that AIP affects 5.9 per 1 000 000 people.