Background Remethylation defects are rare inherited disorders in which impaired
remethylation of homocysteine to methionine leads to accumulation of homocysteine and …

This review gives an overview of clinical characteristics, treatment and outcome of nutritional
and acquired cobalamin (Cbl; synonym: vitamin B12) deficiencies, inborn errors of Cbl …

To date, epimutations reported in man have been somatic and erased in germlines. Here,
we identify a cause of the autosomal recessive cblC class of inborn errors of vitamin B12 …

Aim To explore the clinical presentation, course, treatment and impact of early treatment in
patients with remethylation disorders from the European Network and Registry for …

Methylmalonic acidemia (MMA) is a genetic disease of abnormal organic acid metabolism,
which is one of the important factors affecting the survival rate and quality of life of newborns …

Abstract Cobalamin C (Cbl‐C) defect causes methylmalonic acidemia, homocystinuria,
intellectual disability and visual impairment, despite treatment adherence. While …

Inherited disorders of B 12 metabolism produce a broad spectrum of manifestations, with
limited knowledge of the influence of age and the function of related genes. We report a …

There have been few reports of cases missed by expanded newborn screening. Tandem
mass spectrometry was introduced in New South Wales, Australia in 1998 to screen for …

Background Methylmalonic acidemia (MMA) is the most common organic acidemia in China,
with cblC (cblC-MMA) and mut (mut-MMA) being the predominant subtypes. The present …

Purpose To explore the ocular manifestations of cobalamin C (cblC) deficiency, an inborn
error of intracellular vitamin B12 metabolism. Design Retrospective, observational case …