Sulfite oxidase deficiency

An autosomal recessive metabolic disorder caused by mutations in the SUOX gene (sulfite oxidase). Findings may include ECTOPIA LENTIS; ECZEMA; HEMIPLEGIA; MUSCLE HYPOTONIA or MUSCLE HYPERTONIA; SEIZURES; ATAXIA and DEVELOPMENTAL DISABILITIES. It is characterized by increased urinary sulfite and decreased urinary sulfate and may be lethal in infancy. OMIM: 272300

Also Known As:

Networked: 66 relevant articles (1 outcomes, 2 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Molybdenum cofactor deficiency
2.	Seizures (Absence Seizure)
3.	Inborn Genetic Diseases (Disease, Hereditary)
4.	Mitochondrial Diseases (Mitochondrial Disease)
5.	Peroxisomal Disorders (Peroxisomal Disorder)

Experts

1.	Schwarz, Guenter: 7 articles (01/2022 - 01/2012)
2.	Kaczmarek, Alexander Tobias: 3 articles (01/2022 - 01/2019)
3.	Arjune, Sita: 3 articles (01/2021 - 01/2012)
4.	Lam, Ching-Wan: 3 articles (11/2013 - 01/2002)
5.	Rajagopalan, K V: 3 articles (02/2006 - 05/2002)
6.	Bender, Daniel: 2 articles (01/2022 - 01/2019)
7.	Cirak, Sebahattin: 2 articles (01/2022 - 01/2019)
8.	Santamaria-Araujo, Jose Angel: 2 articles (01/2019 - 01/2012)
9.	Jiang, Yi: 2 articles (05/2018 - 01/2017)
10.	Mistretta, Brandon: 2 articles (05/2018 - 01/2017)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Sulfite oxidase deficiency:

1.	Sulfite OxidaseIBA 01/01/2022 - "Isolated sulfite oxidase deficiency (ISOD) is a rare recessive and infantile lethal metabolic disorder, which is caused by functional loss of sulfite oxidase (SO) due to mutations of the SUOX gene. " 01/01/2021 - "Isolated sulfite oxidase deficiency (ISOD) is a rare autosomal recessive neuro-metabolic disorder caused by a mutation in the sulfite oxidase (SUOX) gene situated on chromosome 12. " 12/23/2019 - "Isolated sulfite oxidase deficiency (ISOD) is an autosomal recessive disorder caused by a deficiency of sulfite oxidase, which is encoded by the sulfite oxidase gene (SUOX). " 01/01/2019 - "Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency." 09/01/2014 - "Several point mutations in the gene of human sulfite oxidase (hSO) result in isolated sulfite oxidase deficiency, an inherited metabolic disorder. "
2.	molybdenum trioxideIBA 05/27/2014 - "Chemically induced sulfite oxidase knockdown cells treated with MoO3 nanoparticles recovered their sulfite oxidase activity in vitro, which makes MoO3 nanoparticles a potential therapeutic for sulfite oxidase deficiency and opens new avenues for cost-effective therapies for gene-induced deficiencies. "
3.	SulfitesIBA 03/19/1981 - "In the urine of a neonate with respiratory insufficiency and convulsions a positive sulfite reaction was found, which is suggestive of sulfite oxidase deficiency. " 08/15/2020 - "By taking advantage of this probe, the first in vivo imaging of sulfate was successfully carried out, not only to trace exogenous sulfite level in living animal, but also to investigate endogenous sulfite in a sulfite oxidase deficiency model." 01/01/2018 - "A central conserved arginine, first identified as a clinical mutation leading to sulfite oxidase deficiency, is essential for catalytic competency of sulfite oxidizing molybdoenzymes, but the molecular basis for its effects on turnover and substrate affinity have not been fully elucidated. " 12/01/2013 - "Disturbance of brain energy and redox homeostasis provoked by sulfite and thiosulfate: potential pathomechanisms involved in the neuropathology of sulfite oxidase deficiency." 10/08/2004 - "Because glutamate is a major metabolite in the brain, inhibition of GDH by sulfite could contribute to the severe phenotype of sulfite oxidase deficiency in human infants."
4.	EnzymesIBA 02/01/2014 - "Further investigations led to confirmation of isolated sulfite oxidase deficiency with no enzyme activity detected on skin fibroblasts culture. " 01/01/2011 - "Mutations in the genes encoding the biosynthetic MoCo pathway enzymes abrogate the activities of all molybdoenzymes and result in the "combined" form of MoCo deficiency, which is clinically very similar to isolated sulfite oxidase deficiency, caused by mutations in the gene for the corresponding apoenzyme. " 05/01/2002 - "Isolated sulfite oxidase deficiency is an autosomal recessive, neurological disorder resulting from a defect in SUOX, the gene encoding the enzyme that catalyzes the terminal reaction in the sulfur amino acid degradation pathway. " 01/01/2021 - "Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency are two rare genetic disorders that are caused by impairment of the mitochondrial enzyme sulfite oxidase. " 03/01/2008 - "The main objective of this study was to investigate the in vitro effects of sulfite, a metabolite accumulated in isolated sulfite oxidase deficiency, on Na (+), K (+)-ATPase activity and on some parameters of oxidative stress, namely thiobarbituric acid-reactive substances (TBARS) and catalase activity (antioxidant enzyme) in cerebral cortex, striatum and hippocampus from 10- and 60-day-old rats. "
5.	AntioxidantsIBA 01/01/2017 - "Bezafibrate prevents mitochondrial dysfunction, antioxidant system disturbance, glial reactivity and neuronal damage induced by sulfite administration in striatum of rats: Implications for a possible therapeutic strategy for sulfite oxidase deficiency." 03/01/2008 - "The main objective of this study was to investigate the in vitro effects of sulfite, a metabolite accumulated in isolated sulfite oxidase deficiency, on Na (+), K (+)-ATPase activity and on some parameters of oxidative stress, namely thiobarbituric acid-reactive substances (TBARS) and catalase activity (antioxidant enzyme) in cerebral cortex, striatum and hippocampus from 10- and 60-day-old rats. "
6.	A-Form DNA (A-DNA)IBA 01/01/2002 - "In this study, we have performed a DNA-based diagnosis of isolated sulfite oxidase deficiency in a Chinese patient. "
7.	Thiobarbituric Acid Reactive SubstancesIBA 03/01/2008 - "The main objective of this study was to investigate the in vitro effects of sulfite, a metabolite accumulated in isolated sulfite oxidase deficiency, on Na (+), K (+)-ATPase activity and on some parameters of oxidative stress, namely thiobarbituric acid-reactive substances (TBARS) and catalase activity (antioxidant enzyme) in cerebral cortex, striatum and hippocampus from 10- and 60-day-old rats. "
8.	CatalaseIBA 03/01/2008 - "The main objective of this study was to investigate the in vitro effects of sulfite, a metabolite accumulated in isolated sulfite oxidase deficiency, on Na (+), K (+)-ATPase activity and on some parameters of oxidative stress, namely thiobarbituric acid-reactive substances (TBARS) and catalase activity (antioxidant enzyme) in cerebral cortex, striatum and hippocampus from 10- and 60-day-old rats. "
9.	Adenosine Triphosphatases (ATPase)IBA 03/01/2008 - "The main objective of this study was to investigate the in vitro effects of sulfite, a metabolite accumulated in isolated sulfite oxidase deficiency, on Na (+), K (+)-ATPase activity and on some parameters of oxidative stress, namely thiobarbituric acid-reactive substances (TBARS) and catalase activity (antioxidant enzyme) in cerebral cortex, striatum and hippocampus from 10- and 60-day-old rats. "
10.	ThiosulfatesIBA 07/02/1979 - "A simple screening test for sulfite oxidase deficiency: detection of urinary thiosulfate by a modification of Sörbo's method." 12/01/2013 - "Disturbance of brain energy and redox homeostasis provoked by sulfite and thiosulfate: potential pathomechanisms involved in the neuropathology of sulfite oxidase deficiency." 01/01/2013 - "Elevated urinary levels of sulfite, thiosulfate, and S-sulfocysteine (SSC) are hallmarks in the diagnosis of both MoCD and sulfite oxidase deficiency. " 01/01/2012 - "Elevated urinary levels of sulfite, thiosulfate, and S-sulfocysteine (SSC) are hallmarks in the diagnosis of MoCD and sulfite oxidase deficiency (SOD). " 04/01/1996 - "Screening for sulfite oxidase deficiency with urinary thiosulfate/sulfate ratios determined by anion chromatography."

Therapies and Procedures

1.	Therapeutics 02/01/2014 - "Sulfite oxidase deficiency (SOD) is an autosomal recessive inherited disease usually presenting in the neonatal period with severe neurological symptoms including seizures, often refractory to anticonvulsant therapy, and a rapidly progressive encephalopathy resembling neonatal hypoxic ischemia, with premature death. " 05/27/2014 - "Chemically induced sulfite oxidase knockdown cells treated with MoO3 nanoparticles recovered their sulfite oxidase activity in vitro, which makes MoO3 nanoparticles a potential therapeutic for sulfite oxidase deficiency and opens new avenues for cost-effective therapies for gene-induced deficiencies. " 09/01/2016 - "Molybdenum cofactor deficiency (MoCD) and Sulfite oxidase deficiency (SOD) are rare autosomal recessive conditions of sulfur-containing amino acid metabolism with overlapping clinical features and emerging therapies. "
2.	Lenses 06/01/1985 - "In the second disorder of sulfite oxidase deficiency, the clinical presentation with progressive dystonia and dislocated lenses in an infant should suggest further laboratory investigations for this disorder which would not be detected by conventional laboratory screening procedures. " 01/01/2002 - "Isolated sulfite oxidase deficiency is a rare autosomal recessive disease, characterized by severe neurological abnormalities, seizures, mental retardation, and dislocation of the ocular lenses, that often leads to death in infancy. " 02/01/1989 - "Sulfite oxidase deficiency is characterized by severe neurologic dysfunction, dislocation of the lenses, and the accumulation and excretion of inorganic sulfite, thiosulfate, and S-sulfocysteine. "