Methionine adenosyltransferase I/III deficiency

Mudd's disease

A rare inborn error of metabolism characterized by persistently elevated serum methionine levels. Individuals with mean levels of less than 800 μM are usually clinically normal, while those with higher means show evidence of central nervous system abnormalities, most notably hypo- or demyelination on brain MRI, as well as developmental delay and intellectual disability. Bad breath or a strong smell of urine and sweat may be noted in some patients.

http://www.orpha.net/ORDO/Orphanet_168598

Mudd's disease

MAT I/III deficiency

A rare inborn error of metabolism characterized by persistently elevated serum methionine levels. Individuals with mean levels of less than 800 μM are usually clinically normal, while those with higher means show evidence of central nervous system abnormalities, most notably hypo- or demyelination on brain MRI, as well as developmental delay and intellectual disability. Bad breath or a strong smell of urine and sweat may be noted in some patients.

Orphanet

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168598

Infancy

Autosomal recessive

UMLS:C0268621

ICD-10:E72.1

OMIM:250850

Methionine adenosyltransferase I/III deficiency

ORPHA:168598

http://www.orpha.net/ORDO/Orphanet_611314

http://www.orpha.net/ORDO/Orphanet_79173

http://www.orpha.net/ORDO/Orphanet_68385

ORDO:Orphanet_168598

Methionine adenosyltransferase I/III deficiency

Worldwide AND has_point_prevalence_range : <1 / 1 000 000

Worldwide AND has_cases/families_value : 2.0 (Case)

http://www.orpha.net/ORDO/Orphanet_611314

http://www.orpha.net/ORDO/Orphanet_79173

http://www.orpha.net/ORDO/Orphanet_68385

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493