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Extraoral halitosis due to methanethiol oxidase deficiency(EHMTO)

MedGen UID:
1648340
•Concept ID:
C4748387
•
Disease or Syndrome
Synonyms: EXTRAORAL HALITOSIS WITH DIMETHYLSULFOXIDURIA; METHANETHIOL OXIDASE DEFICIENCY; MTO DEFICIENCY
SNOMED CT: Methanethiol oxidase deficiency (1269235004); MTO (methanethiol oxidase) deficiency (1269235004); Autosomal recessive extra-oral halitosis (1269235004)
 
Gene (location): SELENBP1 (1q21.3)
 
Monarch Initiative: MONDO:0029144
OMIM®: 618148

Definition

Extraoral halitosis due to methanethiol oxidase deficiency (EHMTO) is a malodor syndrome resulting from an inborn error of metabolism. Breath odor is cabbage-like and results from high levels of methanethiol and dimethylsulfide in breath. Elevated urinary excretion of dimethylsulfone (DMSO2) is diagnostic (Pol et al., 2018). [from OMIM]

Clinical features

From HPO
Halitosis
MedGen UID:
42326
•Concept ID:
C0018520
•
Sign or Symptom
Noticeably unpleasant odors exhaled in breathing.
See: Feature record | Search on this feature

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