Inborn errors of metabolism: a clinical overview [PDF]
, 1999 CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core +4 more sources
Integration of Genome-Wide SNP Data and Gene-Expression Profiles Reveals Six Novel Loci and Regulatory Mechanisms for Amino Acids and Acylcarnitines in Whole Blood. [PDF]
PLoS Genetics, 2015 Profiling amino acids and acylcarnitines in whole blood spots is a powerful tool in the laboratory diagnosis of several inborn errors of metabolism. Emerging data suggests that altered blood levels of amino acids and acylcarnitines are also associated ...
Ralph Burkhardt +14 more
doaj +1 more source
Metabolomics analysis of children with autism, idiopathic-developmental delays, and Down syndrome. [PDF]
, 2019 Although developmental delays affect learning, language, and behavior, some evidence suggests the presence of disturbances in metabolism are associated with psychiatric disorders.
Abbeduto, Leonard +3 more
core +1 more source
Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism [PDF]
, 2023 Dietary or nutritional management strategies are the cornerstone of treatment for many inborn errors of metabolism (IEMs). Though a vital part of standard of care, the products prescribed for this are often not formally registered as medication. Instead,
Bosch, A. M. +7 more
core +1 more source
Long Short-Term Memory to predict 3D Amino acids Positions in GPCR Molecular Dynamics [PDF]
arXiv, 2022 G-Protein Coupled Receptors (GPCRs) are a big family of eukaryotic cell transmembrane proteins, responsible for numerous biological processes. From a practical viewpoint around 34\% of the drugs approved by the US Food and Drug Administration target these receptors.
arxiv
Aminosäuren – Leitlinie Parenterale Ernährung, Kapitel 4 [PDF]
, 2009 Protein catabolism should be reduced and protein synthesis promoted with parenteral nutrion (PN). Amino acid (AA) solutions should always be infused with PN. Standard AA solutions are generally used, whereas specially adapted AA solutions may be required
Blumenstein, Irina Ursula +4 more
core
Lipids and phenylketonuria: current evidences pointed the need for lipidomics studies [PDF]
, 2021 Phenylketonuria (PKU) is the most prevalent inborn error of amino acid metabolism. The disease is due to the deficiency of phenylalanine (Phe) hydroxylase activity, which causes the accumulation of Phe.
Diogo, Luísa M. +6 more
core +1 more source
Asian Journal of Medical Sciences, 2021 Background: Inborn errors of metabolism (IEM) are a cluster of hereditary disorders which are caused due to defect in one or more enzymes or disturbance in the protein transport system.
Nazmin Fatima +4 more
doaj +1 more source
Symmetry Scheme for Amino Acid Codons [PDF]
Phys.Rev.E65, 021912 (2002), 2003 Group theoretical concepts are invoked in a specific model to explain how only twenty amino acids occur in nature out of a possible sixty four. The methods we use enable us to justify the occurrence of the recently discovered twenty first amino acid selenocysteine, and also enables us to predict the possible existence of two more, as yet undiscovered ...
arxiv +1 more source
Cell Reports, 2015 A decline in mitochondrial respiration represents the root cause of a large number of inborn errors of metabolism. It is also associated with common age-associated diseases and the aging process.
Julie Thompson Legault +39 more
doaj +1 more source