Background: Disorders of intracellular cobalamin (Cbl) metabolism are classified from A to J
according to biochemical phenotype, and genetic and complementation analyses. CblD …

Derivatives of cobalamin (vitamin B12) are required for activity of two enzymes in humans.
Adenosylcobalamin is required for activity of mitochondrial methylmalonylCoA mutase and …

Cobalamin and the metabolic markers methylmalonic acid and total homocysteine undergo
marked changes during childhood. In breastfed infants a metabolic profile indicative of …

Transcobalamin II deficiency (# MIM 275350) is a rare, recessively inherited disorder of
cobalamin transport that leads to intracellular cobalamin depletion with secondary …

Cobalamin G (cblG) and cobalamin J (cblJ) defects are rare disorders of cbl metabolism
caused by MTR and ABCD4 mutations, respectively. Patients with atypical biochemical …

Cobalamin C (cblC), a combined form of methylmalonic acidaemia and
hyperhomocysteinaemia, is recognized as the most frequent inborn error of intracellular …

Objectives To present the very long‐term follow up of patients with cobalamin A (cblA)
deficiency. Methods A retrospective case series of adult (> 16 years) patients with molecular …

Clinical characteristics. The clinical manifestations of disorders of intracellular cobalamin
metabolism can be highly variable even within a single complementation group. The …

Introduction Cobalamin C disease is a multisystemic disease with variable manifestations
and age of onset. Genotype-phenotype correlations are well-recognized in this disorder …

Background Methylmalonic aciduria and homocystinuria, CblC type (OMIM# 277400) is the
most common disorder of cobalamin intracellular metabolism, an autosomal recessive …