Development of infantile tremor syndrome after initiation of hydroxycobalamin treatment in an infant with a late diagnosis of cobalamin C disorder
Abstract Combined methylmalonic aciduria and homocystinuria (cobalamin C deficiency, cblC) is a well‐described disorder of vitamin B12 metabolism caused by mutations in the MMACHC gene with multisystemic manifestations. While there is no cure, combined treatment with intramuscular hydroxycobalamin a...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2020-09-01
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| Series: | JIMD Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/jmd2.12145 |