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Eighteen‐year follow‐up of a patient with cobalamin F disease (cblF): Report and review
Author(s) -
Alfadhel Majid,
Lillquist Yolanda P.,
Davis Cynthia,
Junker Anne K.,
StocklerIpsiroglu Sylvia
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.34220
Subject(s) - cobalamin , medicine , failure to thrive , frameshift mutation , megaloblastic anemia , pediatrics , hypotonia , disease , anemia , rash , vitamin b12 , mutation , biology , genetics , gene
Abstract Cobalamin F disease (cblF) is a rare disorder of intracellular cobalamin metabolism resulting in failure to thrive, recurrent stomatitis, skin rash, megaloblastic anemia, hypotonia, seizures, and intellectual disability. Data on long‐term outcomes are not available. We report on the outcome of a patient with cblF disease with a frameshift mutation in the LMBRD1 gene after 18 years of intramuscular hydroxycobalamin treatment. © 2011 Wiley‐Liss, Inc.