Amish, Mennonite, and Hutterite
Genetic Disorder Database

Medium-chain deficiency of Acyl-CoA dehydrogenase

OMIM #: #201450  (Click to access OMIM database)
Disorder: Medium-chain deficiency of Acyl-CoA dehydrogenase 
Also known as: ACADM deficiency, MCAD deficiency, MCADH deficiency 
Phenotype: Usually present in early infancy, lethargy, hypoglycemia, coma, sudden death, symptoms precipitated by fasting or metabolic stress 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
1   Old Order Mennonite, Unknown / Other Mennonite  
Base Change: A>G, at nucleotide 985
Amino Acid Change: lys 329 --> glu
2   Old Order Mennonite  
Base Change: IVS4 - 30A>G
Amino Acid Change:
3   Amish  
Base Change: T>C, at nucleotide 199
Amino Acid Change:
Last updated: 2019-07-03 

Andresen BS, Jensen TG, Bross P, Kundsen I, Winter V, Kolvraa S, Bolund L, Ding JH, Chen YT, and Van Hove JL. (1994) Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene. Am. J. Hum. Genet. 54(6): 975-988.
PubMed ID: 8198141 
Casey JL. (1992) MCAD deficiency in the Holderman Mennonite population in central Kansas. Kans Med. 93(11): 306-8.
PubMed ID: 1460814 
Derks T, Reijngoud D-J, Waterham H, Gerver W-J, Van Den Berg M, Sauer P, and Smit, P. (2006) The Natural History of Medium-chain Acyl COA Dehydrogenase Deficiency in the Netherlands: Clinical Presentation and Outcome. J Pediatr. 148: 665-670.
PubMed ID: 16737882 
Matsubara Y, Narisawa K, Miyabayashi S, Tada K, Coates PM, Bachmann C, Elsas LJ, Pollitt RJ, Rhead WJ, and Roe CR. (1990) Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency. Biochem Biophys Res Commun 171(1): 498-505.
PubMed ID: 2393404 
Personal communication; seen at CSC.  
Puffenberger EG. (2003) Genetic Heritage of the Old Order Mennonites of Southeastern Pennsylvania. Am. J. of Medical Genetics Part C 121C: 18-31.
PubMed ID: 12888983