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

Homocystinuria (HCU) refers to a group of inherited disorders of homocysteine metabolism
associated with high blood homocysteine concentration, thromboembolic tendency and …

ABSTRACT Severe 5, 10‐methylenetetrahydrofolate reductase (MTHFR) deficiency is
caused by mutations in the MTHFR gene and results in hyperhomocysteinemia and varying …

Abstract The 5, 10 methylenetetrahydrofolate reductase (MTHFR) enzyme is a catalyst in the
folate metabolism pathway, the byproducts of which are involved in the remethylation of …

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 …

Metabolic diseases should always be considered when evaluating children presenting with
seizures. This is because many metabolic disorders are potentially treatable and seizure …

The most common variant causing Pompe disease is c.-32-13T> G (IVS1) in the acid α-
glucosidase (GAA) gene, which weakens the splice acceptor of GAA exon 2 and induces …

Introduction Homocysteine is a sulfur-containing amino acid formed in the intermediary
metabolism of methionine. Amino acid metabolism and heme biosynthesis pathways are …

MTHFR deficiency is a severe inborn error of metabolism leading to impairment of the
remethylation of homocysteine to methionine. Neonatal and early‐onset patients mostly …

Although individual cases of inherited metabolic disorders are rare, overall they account for
a substantial number of disorders affecting the central nervous system. Organic acidemias …