Visit Metagene.de!
Summary
EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY (EHMTO)
METHANETHIOL OXIDASE (MTO) DEFICIENCY
618148
OMIM = Online Medalian Inheritance of Men
562538
1q21.3
very rare
autosomal recessive
mutation in Selenium binding protein1 (SELENBP1)
symptoms
cabbage-like breath odor
onset, childhood
onset, infancy
unusual odor / odour
laboratory finding
Dimethylsulfoxide (DMSO)4.0031.00 mmol/mol creatinineurine
Dimethylsulfide (DMS)70.00480.00 mol/mol creatinineurine
Dimethylsulfone (DMSO2)28.0060.00 mmol/mol creatinineurine
Dimethylsulfone (DMSO2)36.0068.00 +€mol/lblood
Literature
Munoz MA,et al.Defective protein prenylation is a diagnostic biomarker of mevalonate kinase deficiencyJ Allergy Clin Immunol1403873-8752017
Dehghan Manshadi M,et al.Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutationsTher Clin Risk Manag130725-7312017
Yamashita Y,et al.A 6-year-old girl diagnosed with mevalonate kinase deficiency who had hydrops fetalis and neonatal-onset cholestasisNihon Rinsho Meneki Gakkai Kaishi402131-1372017
Ter Haar NM,et al.The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever RegistryArthritis Rheumatol68112795-28052016