Methylmalonic aciduria and homocystinuria, cblC type
| Disorder | |
|---|---|
| OMIM #: | #277400 (Click to access OMIM database) |
| Disorder: | Methylmalonic aciduria and homocystinuria, cblC type |
| Also known as: | METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblC TYPE METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, VITAMIN B12-RESPONSIVE VITAMIN B12 METABOLIC DEFECT WITH COMBINED DEFICIENCY OF METHYLMALONYL-CoA MUTASE AND HOMOCYSTEINE:METHYLTETRAHYDROFOLATE METHYLTRANSFERASE |
| Clinical | |
| Phenotype: | microcephaly, low-set ears, retinitis pigmentosa, vasulcar lesions, thrombotic microangiopathy, thromboembolism, megaloblastic anemia, neutropenia, developmental delay, hypotonia, cortical atrophy, homocystinuria, methylmalonic aciduria |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | MMACHC |
| Base Change: | ins.A, at nucleotide 271 |
| Amino Acid Change: | Frame shift |
| Last updated: | 2022-11-06 |
| References |
|---|
| Personal communication; seen at CSC. |
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