MTFMT deficiency
| Disorder | |
|---|---|
| OMIM #: | *611766 (Click to access OMIM database) |
| Disorder: | MTFMT deficiency |
| Also known as: | MTFMT mitochondrial translation disorder |
| Clinical | |
| Phenotype: | severe neonatal lactic acidosis, developmental delay, complex I and IV deficiencies, hypotonia, dysmorphic features, cardiomyopathy |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Hutterite | |
| Gene: | MTFMT |
| Base Change: | C>T, at nucleotide 994 |
| Amino Acid Change: | arg 332 --> term |
| Last updated: | 2022-11-07 |
| References |
|---|
| Bennett J, Kerr M, Greenway SC, Friederich MW, Van Hove JLK, Hittel D, Khan A. (2020) Improved lactate control with dichloroacetate in a case with severe neonatal lactic acidosis due to MTFMT mitochondrial translation disorder. Mol Genet Metab Rep Jun 15;24:100616. PubMed ID: 32577402 |
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