Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.
Kripps KA, Sremba L, Larson AA, Van Hove JLK, Nguyen H, Wright EL, Mirsky DM, Watkins D, Rosenblatt DS, Ketteridge D, Berry SA, McCandless SE, Baker PR 2nd.
Kripps KA, et al.
J Inherit Metab Dis. 2022 Mar;45(2):157-168. doi: 10.1002/jimd.12448. Epub 2021 Oct 21.
J Inherit Metab Dis. 2022.
PMID: 34625984
The clinical presentation of cblG is variable, ranging from seizures, encephalopathy, macrocytic anemia, hypotonia, and feeding difficulties in the neonatal period to onset of psychiatric symptoms or acute neurologic changes in adolescence or adulthood. ...
The clinical presentation of cblG is variable, ranging from seizures, encephalopathy, macrocytic anemia, hypotonia, and feedin …