Abstract Vitamin B12 (cobalamin, Cbl) is a nutrient essential to human health. Due to its
complex structure and dual cofactor forms, Cbl undergoes a complicated series of …

Adverse childhood experiences (ACEs) may be referred to by other terms (eg, early life
adversity or stress and childhood trauma) and have a lifelong impact on mental and physical …

Transgenerational epigenetic inheritance refers to the transmission of epigenetic information
through the germline. While it has been observed in plants, nematodes and fruit flies, its …

Exome sequencing (ES) in the clinical setting of inborn metabolic diseases (IMDs) has
created tremendous improvement in achieving an accurate and timely molecular diagnosis …

Similar to environmental factors, EDCs (endocrine-disrupting chemicals) can influence gene
expression without modifying the DNA sequence. It is commonly accepted that the …

In recent years, we have seen an increasing amount of evidence pointing to the existence of
a non-genetic heredity of the effects of events such as separation from parents, threat to life …

Mitochondrial disorders are monogenic disorders characterized by a defect in oxidative
phosphorylation and caused by pathogenic variants in one of over 340 different genes. The …

We report an inborn error of metabolism caused by an expansion of a GCA-repeat tract in
the 5′ untranslated region of the gene encoding glutaminase (GLS) that was identified …

Abstract Methyl-Cobalamin (Cbl) derives from dietary vitamin B12 and acts as a cofactor of
methionine synthase (MS) in mammals. MS encoded by MTR catalyzes the remethylation of …

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