EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY (EHMTO)

Question 1

What is  EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY (EHMTO)?

Accepted Answer

very rare

autosomal recessive

mutation in Selenium binding protein1 (SELENBP1)

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618148

Question 3

Which enzymes are involved?

Accepted Answer

methanethiol oxidase (MTO)

Disease	EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY (EHMTO)
Synonym	METHANETHIOL OXIDASE (MTO) DEFICIENCY
OMIM	618148 OMIM = Online Mendelian Inheritance of Men
Orphanet	562538
Protein (UniProt)	methanethiol oxidase (MTO)
Gene locus	1q21.3
ICD
Summary	very rare autosomal recessive mutation in Selenium binding protein1 (SELENBP1)
Laboratory findings	Dimethylsulfide (DMS) inc (urine) Dimethylsulfoxide (DMSO) inc (urine) Dimethylsulfone (DMSO2) inc (urine) Dimethylsulfone (DMSO2) inc (blood)
Symptoms	cabbage-like breath odor onset, childhood onset, infancy unusual odor / odour