MCID: SLF004
MIFTS: 42

Sulfite Oxidase Deficiency

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Fetal diseases

Aliases & Classifications for Sulfite Oxidase Deficiency

MalaCards integrated aliases for Sulfite Oxidase Deficiency:

Name: Sulfite Oxidase Deficiency 54 50 24 29 13 52 69
Sulfocysteinuria 50 24 56 71 69
Isolated Sulfite Oxidase Deficiency 56 71
Isod 56 71
Sulfite Oxidase 13

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
death in infancy


HPO:

32
sulfite oxidase deficiency:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Sulfite Oxidase Deficiency

UniProtKB/Swiss-Prot : 71 Isolated sulfite oxidase deficiency: Characterized by neurological abnormalities including multicystic leukoencephalopathy with brain atrophy. Patients often suffer from seizures. Often leads to death at an early age.

MalaCards based summary : Sulfite Oxidase Deficiency, also known as sulfocysteinuria, is related to isolated sulfite oxidase deficiency and encephalopathy due to sulfite oxidase deficiency, and has symptoms including ataxia, choreoathetosis and seizures. An important gene associated with Sulfite Oxidase Deficiency is SUOX (Sulfite Oxidase). The drugs Molybdenum and Micronutrients have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and testes.

Wikipedia : 72 1MJ4... more...

Description from OMIM: 272300

Related Diseases for Sulfite Oxidase Deficiency

Graphical network of the top 20 diseases related to Sulfite Oxidase Deficiency:



Diseases related to Sulfite Oxidase Deficiency

Symptoms & Phenotypes for Sulfite Oxidase Deficiency

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
ataxia
developmental delay
choreoathetosis
seizures
hypertonia
more
Head And Neck- Eyes:
ectopia lentis

Skin Nails & Hair- Skin:
mild eczema

Laboratory- Abnormalities:
decreased sulfite oxidase activity in fibroblasts
increased urinary sulfite
decreased urinary sulfate

Skin Nails & Hair- Hair:
fine hair

Head And Neck- Teeth:
delayed teething

Neurologic- Behavioral Psychiatric Manifestations:
restlessness, agitation, crying under stress


Clinical features from OMIM:

272300

Human phenotypes related to Sulfite Oxidase Deficiency:

32 (show all 16)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 choreoathetosis 32 HP:0001266
3 seizures 32 HP:0001250
4 hypertonia 32 HP:0001276
5 global developmental delay 32 HP:0001263
6 hemiplegia 32 HP:0002301
7 fine hair 32 HP:0002213
8 agitation 32 HP:0000713
9 eczema 32 HP:0000964
10 ectopia lentis 32 HP:0001083
11 delayed eruption of teeth 32 HP:0000684
12 generalized dystonia 32 HP:0007325
13 increased urinary sulfite 32 HP:0011942
14 decreased urinary sulfate 32 HP:0003359
15 infantile muscular hypotonia 32 HP:0008947
16 sulfite oxidase deficiency 32 HP:0003643

UMLS symptoms related to Sulfite Oxidase Deficiency:


ataxia, seizures

Drugs & Therapeutics for Sulfite Oxidase Deficiency

Drugs for Sulfite Oxidase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Molybdenum Approved Phase 2, Phase 3,Phase 1 7439-98-7 185498
2 Micronutrients Phase 2, Phase 3,Phase 1
3 Trace Elements Phase 2, Phase 3,Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Study of ALXN1101 in Neonates With Molybdenum Cofactor Deficiency (MOCD) Type A Active, not recruiting NCT02629393 Phase 2, Phase 3 ALXN1101
2 Safety & Efficacy Study of ALXN1101 in Pediatric Patients With MoCD Type A Currently Treated With rcPMP Active, not recruiting NCT02047461 Phase 2 ALXN1101
3 Phase 1 Single Dose Study of ALXN1101 in Healthy Volunteers Completed NCT01894165 Phase 1 ALXN1101;Placebo
4 A Natural History Study of Molybdenum Cofactor and Isolated Sulfite Oxidase Deficiencies Completed NCT01735188

Search NIH Clinical Center for Sulfite Oxidase Deficiency

Genetic Tests for Sulfite Oxidase Deficiency

Genetic tests related to Sulfite Oxidase Deficiency:

id Genetic test Affiliating Genes
1 Sulfite Oxidase Deficiency 29
2 Sulfocysteinuria 24 SUOX

Anatomical Context for Sulfite Oxidase Deficiency

MalaCards organs/tissues related to Sulfite Oxidase Deficiency:

39
Brain, Eye, Testes

Publications for Sulfite Oxidase Deficiency

Articles related to Sulfite Oxidase Deficiency:

(show top 50) (show all 54)
id Title Authors Year
1
A compound heterozygote case of isolated sulfite oxidase deficiency. ( 28725568 )
2017
2
Prenatal brain disruption in isolated sulfite oxidase deficiency. ( 28629418 )
2017
3
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. ( 28529047 )
2017
4
Oxygen reactivity of mammalian sulfite oxidase provides a concept for the treatment of sulfite oxidase deficiency. ( 26171830 )
2015
5
Isolated sulfite oxidase deficiency. ( 25758000 )
2015
6
Prenatal multicystic encephalopathy in isolated sulfite oxidase deficiency with a novel mutaion. ( 24938149 )
2014
7
Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency. ( 24756183 )
2014
8
Neurologic injury in isolated sulfite oxidase deficiency. ( 24384336 )
2014
9
Sulfite oxidase deficiency - An unusual late and mild presentation. ( 23452914 )
2014
10
Sulfite oxidase deficiency in a newborn. ( 25073245 )
2014
11
Preimplantation genetic diagnosis in isolated sulfite oxidase deficiency. ( 23250141 )
2013
12
Microarray analysis unmasked paternal uniparental disomy of chromosome 12 in a patient with isolated sulfite oxidase deficiency. ( 23994568 )
2013
13
Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency. ( 23414711 )
2013
14
Disturbance of brain energy and redox homeostasis provoked by sulfite and thiosulfate: potential pathomechanisms involved in the neuropathology of sulfite oxidase deficiency. ( 24035933 )
2013
15
a8^a8^mTc-ethyl cysteinate dimer cranial single-photon emission computed tomography and serial cranial magnetic resonance imaging in a girl with isolated sulfite oxidase deficiency. ( 22704016 )
2012
16
Clinical and imaging observations in isolated sulfite oxidase deficiency. ( 21572056 )
2011
17
Spinal reflexes in normal and sulfite oxidase deficient rats: effect of sulfite exposure. ( 18842692 )
2008
18
Isolated sulfite oxidase deficiency in the newborn: lactic acidaemia and leukoencephalopathy. ( 17607604 )
2007
19
Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency. ( 17940249 )
2007
20
Visual evoked potentials in normal and sulfite oxidase deficient rats exposed to ingested sulfite. ( 16150492 )
2006
21
Proton magnetic resonance spectroscopy and diffusion-weighted imaging in isolated sulfite oxidase deficiency. ( 16970890 )
2006
22
Effect of sulfite on red blood cell deformability ex vivo and in normal and sulfite oxidase-deficient rats in vivo. ( 15827731 )
2005
23
Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature. ( 16140720 )
2005
24
Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency. ( 15952210 )
2005
25
Structural analysis of missense mutations causing isolated sulfite oxidase deficiency. ( 16234925 )
2005
26
Structural insights into sulfite oxidase deficiency. ( 16048997 )
2005
27
Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. ( 12533804 )
2003
28
DNA-based diagnosis of isolated sulfite oxidase deficiency by denaturing high-performance liquid chromatography. ( 11825068 )
2002
29
Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients. ( 12112661 )
2002
30
Isolated sulfite oxidase deficiency: MR imaging features. ( 11901024 )
2002
31
Isolated sulfite oxidase deficiency: mutation analysis and DNA-based prenatal diagnosis. ( 12001203 )
2002
32
Isolated sulfite oxidase deficiency: review of two cases in one family. ( 10519592 )
1999
33
Human sulfite oxidase R160Q: identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme. ( 9600976 )
1998
34
[Isolated sulfite oxidase deficiency]. ( 9645040 )
1998
35
Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase. ( 9428520 )
1997
36
Isolated sulfite oxidase deficiency. ( 9050047 )
1996
37
Screening for sulfite oxidase deficiency with urinary thiosulfate/sulfate ratios determined by anion chromatography. ( 8605694 )
1996
38
Ophthalmic abnormalities in molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. ( 8531042 )
1995
39
[Sulfite oxidase deficiency presenting as Leigh syndrome]. ( 7834040 )
1994
40
Isolated Sulfite Oxidase Deficiency ( 28933809 )
1993
41
Sulfite oxidase deficiency: clinical, neuroradiologic, and biochemical features in two new patients. ( 2915798 )
1989
42
A review of the clinical presentation and laboratory findings in two uncommon hereditary disorders of sulfur amino acid metabolism, beta-mercaptolactate cysteine disulfideuria and sulfite oxidase deficiency. ( 3888441 )
1985
43
Ampicillin interference with test for sulfite oxidase deficiency. ( 6848268 )
1983
44
Iodine-Azide spot test in screening for sulfite-oxidase deficiency. ( 7074847 )
1982
45
2-Mercaptoethanesulfonate-cysteine disulfide excretion following the administration of 2-mercaptoethanesulfonate--a pitfall in the diagnosis of sulfite oxidase deficiency. ( 6784974 )
1981
46
Sulfite oxidase deficiency: a high risk factor in SO2, sulfite, and bisulfite toxicity? ( 7219240 )
1981
47
Simultaneous occurrence of xanthine oxidase and sulfite oxidase deficiency. A molybdenum dependent inborn error of metabolism? ( 583402 )
1979
48
A simple screening test for sulfite oxidase deficiency: detection of urinary thiosulfate by a modification of SAPrbo's method. ( 509724 )
1979
49
Sulfite oxidase deficiency. ( 869598 )
1977
50
Sulfite oxidase deficiency. Biochemical and clinical investigations of a hereditary metabolic disorder in sulfur metabolism. ( 302914 )
1977

Variations for Sulfite Oxidase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Sulfite Oxidase Deficiency:

71 (show all 11)
id Symbol AA change Variation ID SNP ID
1 SUOX p.Arg217Gln VAR_002200 rs121908007
2 SUOX p.Ala265Asp VAR_002201 rs121908008
3 SUOX p.Ser427Tyr VAR_002202
4 SUOX p.Gly530Asp VAR_002203 rs121908009
5 SUOX p.Ile258Leu VAR_015724
6 SUOX p.Arg268Gln VAR_015725
7 SUOX p.Gly362Ser VAR_015726 rs757559168
8 SUOX p.Arg366His VAR_015727 rs776690106
9 SUOX p.Lys379Arg VAR_015728 rs777114729
10 SUOX p.Gln396Arg VAR_015729
11 SUOX p.Trp450Arg VAR_015730

ClinVar genetic disease variations for Sulfite Oxidase Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SUOX NM_000456.2(SUOX): c.650G> A (p.Arg217Gln) single nucleotide variant Pathogenic rs121908007 GRCh37 Chromosome 12, 56397823: 56397823
2 SUOX NM_000456.2(SUOX): c.794C> A (p.Ala265Asp) single nucleotide variant Pathogenic rs121908008 GRCh37 Chromosome 12, 56397967: 56397967
3 SUOX SUOX, SER370TYR single nucleotide variant Pathogenic
4 SUOX NM_000456.2(SUOX): c.1589G> A (p.Gly530Asp) single nucleotide variant Pathogenic rs121908009 GRCh37 Chromosome 12, 56398762: 56398762
5 SUOX SUOX, 1-BP DEL, 1244G deletion Pathogenic
6 SUOX NM_000456.2(SUOX): c.332T> A (p.Val111Asp) single nucleotide variant Likely pathogenic rs794729211 GRCh37 Chromosome 12, 56397505: 56397505

Expression for Sulfite Oxidase Deficiency

Search GEO for disease gene expression data for Sulfite Oxidase Deficiency.

Pathways for Sulfite Oxidase Deficiency

GO Terms for Sulfite Oxidase Deficiency

Molecular functions related to Sulfite Oxidase Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.26 SUOX XDH
2 catalytic activity GO:0003824 9.16 MOCS1 XDH
3 iron-sulfur cluster binding GO:0051536 8.96 MOCS1 XDH
4 molybdopterin cofactor binding GO:0043546 8.62 SUOX XDH

Sources for Sulfite Oxidase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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