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

The cblC defect is the most common inborn error of vitamin B12 metabolism. Despite therapeutic
measures, the long-term outcome is often unsatisfactory. This retrospective multicentre …

This paper reports clinical and metabolic studies of two Italian siblings with a novel form of
persistent isolated hypermethioninaemia, ie abnormally elevated plasma methionine that …

OBJECTIVE: Sapropterin dihydrochloride, the synthetic form of 6R-tetrahydrobiopterin (BH4),
is an approved drug for the treatment of patients with BH4-responsive phenylketonuria (…

Methylmalonic aciduria (MMA) and homocystinuria, cblC type (MIM 277400) is the most
frequent inborn error of vitamin B 12 . The recent identification of the disease gene, MMACHC, …

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 …

Phenylketonuria (PKU) is an inherited metabolic disease caused by phenylalanine hydroxylase
(PAH) deficiency. As the resulting high blood phenylalanine (Phe) concentration can …

Tyrosinemia type III (OMIM 276710) is an autosomal recessive disorder caused by the
deficiency of 4-hydroxyphenylpyruvate dioxygenase (HPD), the second enzyme in the tyrosine …

BACKGROUND AND PURPOSE: Combined methylmalonic aciduria and homocystinuria (MMA-HC)
is caused by impaired hepatic conversion of dietary cobalamin to methylcobalamin …

Purpose To assess how the current practice of newborn screening (NBS) for homocystinurias
compares with published recommendations. Methods Twenty‐two of 32 NBS programmes …