Medium-chain deficiency of Acyl-CoA dehydrogenase
| Disorder | |
|---|---|
| OMIM #: | #201450 (Click to access OMIM database) |
| Disorder: | Medium-chain deficiency of Acyl-CoA dehydrogenase |
| Also known as: | ACADM deficiency, MCAD deficiency, MCADH deficiency |
| Clinical | |
| Phenotype: | Usually present in early infancy, lethargy, seizures, hypotonia, cerebral edema, coma, hypoglycemia, metabolic acidosis, sudden death, symptoms precipitated by fasting or metabolic stress |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Old Order Mennonite, Unknown / Other Mennonite | |
| Gene: | ACADM |
| Base Change: | A>G, at nucleotide 985 |
| Amino Acid Change: | lys 329 --> glu |
| 2 Old Order Mennonite | |
| Gene: | ACADM |
| Base Change: | IVS4 - 30A>G |
| Amino Acid Change: | |
| 3 Amish | |
| Gene: | ACADM |
| Base Change: | T>C, at nucleotide 199 |
| Amino Acid Change: | |
| Last updated: | 2022-11-06 |
| References |
|---|
| 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 |
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