Inborn Metabolic Diseases
Diagnosis and Treatment
Article
Methylmalonic aciduria (MMA) is an inborn error of metabolism with multiple monogenic causes and a poorly understood pathogenesis, leading to the absence of effective causal treatments. Here we employ multi-la...
Article
Pathogenic variants in MMAB cause cblB-type methylmalonic aciduria, an autosomal-recessive disorder of propionate metabolism. MMAB encodes ATP:cobalamin adenosyltransferase, using ATP and cob(I)alamin to create 5...
Article
epi-cblC is a recently discovered inherited disorder of intracellular vitamin B12 metabolism associating hematological, neurological, and cardiometabolic outcomes. It is produced by an epimutation at the promoter...
Article
Acute intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders and non-acute IT-IEM such as phenylketonuria (PKU) and their treatment have a major impact on the life of affected chil...
Chapter
Two inherited defects affecting the coenzyme function of biotin are known: holocarboxylase synthetase (HCS) deficiency and biotinidase deficiency. Both lead to deficiency of all biotin-dependent carboxylases, ...
Book
Chapter
Vitamin B12 (Cbl) is needed for just two metabolic reactions in man, the methylation of homocysteine to methionine (cofactor methyl-Cbl) and the conversion of methylmalonyl-CoA to succinyl-CoA (cofactor adenosyl-...
Chapter
Hyperornithinaemia due to ornithine aminotransferase (OAT) deficiency results from loss of function mutations in OAT and causes gyrate atrophy of the choroid and retina (GA), a progressive retinal degeneration. T...
Reference Work Entry In depth
While the majority of children with renal dysfunction have structural, immunological, or infectious disorders, some have metabolic defects arising from abnormalities in biochemical pathways of cell metabolism....
Article
Article
The aim of the study was a systematic evaluation of cognitive development in individuals with glutaric aciduria type 1 (GA1), a rare neurometabolic disorder, identified by newborn screening in Germany. This na...
Article
The number of market approvals of orphan medicinal products (OMPs) has been increasing steadily in the last 3 decades. While OMPs can offer a unique chance for patients suffering from rare diseases, they are u...
Living Reference Work Entry In depth
While the majority of children with renal dysfunction have structural, immunological, or infectious disorders, some have metabolic defects arising from abnormalities in biochemical pathways of cell metabolism....
Article
Low protein diet and sodium or glycerol phenylbutyrate, two pillars of recommended long-term therapy of individuals with urea cycle disorders (UCDs), involve the risk of iatrogenic growth failure. Limited evid...
Article
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Article
Deregulation of mitochondrial network in terminally differentiated cells contributes to a broad spectrum of disorders. Methylmalonic acidemia (MMA) is one of the most common inherited metabolic disorders, due ...
Article
Inborn errors of metabolism (IEM) are a group of rare, heterogeneous and complex genetic conditions. Clinically, IEM often affect the central nervous system and other organs. Some carry the risk of progression...
Article
To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and Registry for Homocystinurias and Methylation Defects...
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To improve our understanding of urea cycle disorders (UCDs) prospectively followed by two North American (NA) and European (EU) patient cohorts.
Article
Due to an unfortunate error during the typesetting process, the collaborators were presented incorrectly.