KEGG   DISEASE: Extraoral halitosis due to MTO deficiency
Entry
H02485                      Disease                                
Name
Extraoral halitosis due to MTO deficiency
Description
Extraoral halitosis due to MTO deficiency (EHMTO) is a novel inborn error of metabolism. Mutations in SELENBP1 in patients with cabbage-like breath odor have been identified. The malodor was attributable to high levels of methanethiol and dimethylsulfide in their breath. SELENBP1 has been identified as the human methanethiol oxidase (MTO) catalyzing the conversion of methanethiol into formaldehyde, H2S, and hydrogen peroxide.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H02485  Extraoral halitosis due to MTO deficiency
Pathway
hsa00920  Sulfur metabolism
Gene
SELENBP1 [HSA:8991] [KO:K17285]
Other DBs
ICD-11: 5C50.B
ICD-10: E88.8
OMIM: 618148
Reference
PMID:29255262
  Authors
Pol A, Renkema GH, Tangerman A, Winkel EG, Engelke UF, de Brouwer APM, Lloyd KC, Araiza RS, van den Heuvel L, Omran H, Olbrich H, Oude Elberink M, Gilissen C, Rodenburg RJ, Sass JO, Schwab KO, Schafer H, Venselaar H, Sequeira JS, Op den Camp HJM, Wevers RA
  Title
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
  Journal
Nat Genet 50:120-129 (2018)
DOI:10.1038/s41588-017-0006-7

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  All links  
Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (1)   
   PubMed (1)   
All databases (4)   

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