Clinical spectrum of intracellular cobalamin metabolism disorders: a single-center retrospective study from the United Arab Emirates
Cobalamin is essential for DNA synthesis and for methylmalonyl-CoA mutase and methionine synthase activity. Inherited disorders of intracellular cobalamin (Cbl) metabolism are single-gene defects affecting absorption, transport, or intracellular processing, with variable phenotypes depending on the severity and l...