Abstract
We describe 2 children with cobalamin G disease, a disorder of vitamin B 12 metabolism with normal serum B 12 levels. They presented with megaloblastic anemia progressing rapidly to severe thrombotic microangiopathy. In infants presenting with acute thrombotic microangiopathy, cobalamin disorders should be considered early as diagnosis and targeted treatment can be lifesaving.
Original language | English (US) |
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Pages (from-to) | 315-319.e2 |
Journal | Journal of Pediatrics |
Volume | 202 |
DOIs | |
State | Published - Nov 2018 |
Externally published | Yes |
Bibliographical note
Publisher Copyright:© 2018 Elsevier Inc.
Keywords
- Cobalamin G disease
- Coblamain C disease
- hyperhomocysteinemia
- megaloblastic anemia
- methionine synthase
- thrombotic microangiopathy