3-Methylcrotonyl-CoA carboxylase 2 deficiency
| Disorder | |
|---|---|
| OMIM #: | #210210 (Click to access OMIM database) |
| Disorder: | 3-Methylcrotonyl-CoA carboxylase 2 deficiency |
| Also known as: | MCC2 deficiency methylcrotonylglycinuria, type II 3-methylcrotonylglycinuria II |
| Clinical | |
| Phenotype: | hypoglycemia, hyperammonemia, lactic acidemia, hypotonia, ketonuria, failure to thrive, developmental delay; sudden ingestion of protein may lead to lethargy, coma, sudden death |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | MCCC2 |
| Base Change: | c.517dupT |
| Amino Acid Change: | p.Ser173Phefs*25 |
| 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: | glu 229 --> asp |
| Last updated: | 2022-11-28 |
| References |
|---|
| 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 |
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