Amish, Mennonite, and Hutterite
Genetic Disorder Database

Methylmalonic acidurea due to methylmalonyl-CoA mutase deficiency

Disorder
OMIM #: #251000  (Click to access OMIM database)
Disorder: Methylmalonic acidurea due to methylmalonyl-CoA mutase deficiency 
Also known as: MMA due to MCM deficiency 
Clinical
Phenotype: ketonuria, ketoacidosis, metabolic acidosis, unresponsive to vitamin B12, hyperammonemia, thrombocytopenia, neutropenia, hyperbilirubinemia, hepatomegaly, failure to thrive, lethargy, vomiting, respiratory distress, hypotonicity 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Hutterite  
Gene: MUT
Base Change: C>T, at nucleotide 1420
Amino Acid Change: arg 474 -->
Last updated: 2018-12-14 

References
Fowlow SB, Holmes TM, Morgan K, Snyder FF. (1985) Screening for methylmalonic aciduria in Alberta: a voluntary program with particular significance for the Hutterite brethren. Am J Med Genet 22:513-519.
PubMed ID: 2865895 
Worgan L, Niles K, Tirone J, Hofmann A, Verner A, Sammak A, Kucic T, Lepage P, and Rosenblatt D. (2006) Spectrum of Mutations in mut Methylmalonic Acidemia and Identification of a Common Hispanic Mutation and Haplotype. Hum Mutat 27(1): 31-43.
PubMed ID: 16281286 

Back