Amish, Mennonite, and Hutterite
Genetic Disorder Database

3-Methylcrotonyl-CoA carboxylase 2 deficiency

OMIM #: #210210  (Click to access OMIM database)
Disorder: 3-Methylcrotonyl-CoA carboxylase 2 deficiency 
Also known as: MCC2 deficiency
methycrotonylglycinuria, type 2 
Phenotype: 3-Methylcrotonylglycinuria, hypoglycemia, hyperammonemia, lactic acidemia, hypotonicity, Sudden ingestion of protein may lead to; lethargy, coma, sudden death 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
1   Old Order Mennonite  
Gene: MCCC2
Base Change: 518insT
Amino Acid Change: Frame shift
2   Amish  
Gene: MCCC2
Base Change: G>C, at nucleotide 295
Amino Acid Change: glu 99 --> gln
3   Old Order Mennonite  
Gene: MCCC2
Base Change: A>C, at nucleotide 687
Amino Acid Change:
Last updated: 2018-12-13 

Baumgartner MR, Almashanu S, Suormala T, Obie C, Cole RN, Packman S, Baumgartner ER, and Valle D. (2001) The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. J Clin Invest 107(4): 495-504.
PubMed ID: 11181649 
Gallardo ME, Desviat L, Rodriguez J, Esparza-Gordillo Perez-Cerda C, Perez B, Rodriquez-Pombo P, Criado O, Sanz R, Holmes Morton D, Gibson K, Le T, Ribes A, Rodriquez de Cordoba S, Ugarte M, and Penalva M. (2001) The Molecular Basis of 3-Methylcrotonylglycinuria, a Disorder of Leucine Catabolism. Am. J. Hum. Genet. 68: 334-346.
PubMed ID: 11170888 
Gibson K, Bennett M, Naylor E, and Morton D. (1998) 3-methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children. The Journal of Pediatrics 132(3): 519-523.
PubMed ID: 9544913