Rare genetic diseases, often referred to as orphan diseases due to their low prevalence and
limited treatment options, have long posed significant challenges to our medical system. In …

Orthotopic liver transplantation (OLT) in the care of children with inborn errors of metabolism
(IEM) is well established and represent the second most common indication for pediatric …

Analytical and therapeutic innovations led to a continuous but variable extension of newborn
screening (NBS) programmes worldwide. Every extension requires a careful evaluation of …

The current German newborn screening (NBS) panel includes 13 inherited metabolic
diseases (IMDs). In addition, a NBS pilot study in Southwest Germany identifies individuals …

Although both localized nuclear magnetic resonance spectroscopy (MRS) and non-localized
nuclear magnetic resonance spectroscopy (NMR) generate the same information, ie, spectra …

Methylmalonic acidemia cblB type (MMA cblB) is an autosomal recessive inborn error of
amino acid metabolism that results in impaired synthesis of adenosylcobalamin, a cofactor …

The author provides an overview of the hereditary isolated methylmalonic acidemias, a
group of metabolic disorders with varied clinical presentations. This includes the most …

Organic acidurias or acidaemias (OADs), such as glutaric aciduria type 1, methylmalonic,
propionic and isovaleric aciduria, are a group of inherited metabolic diseases whose …