Extraoral halitosis due to methanethiol oxidase deficiency

Synonyms: EXTRAORAL HALITOSIS WITH DIMETHYLSULFOXIDURIA; METHANETHIOL OXIDASE DEFICIENCY; MTO DEFICIENCY

Summary

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]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Sequence analysis of the entire coding region (1)

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

SELENBP1
5 tests
Also known as: EHMTO, HEL-S-134P, LPSB, MTO, SBP56, SP56, hSBP, SELENBP1
Summary: selenium binding protein 1

Imported from Human Phenotype Ontology (HPO)

Show all Hide all

Abnormality of head or neck
- Halitosis
  Halitosis
  - MedGen UID: 42326
  - Concept ID: C0018520
  - Finding: Sign or Symptom
  Abnormality of head or neck
  See: Feature record | Search on this feature

Reviews

Clinical resources

Molecular resources

Consumer resources

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.