Autism: Screening of inborn errors of metabolism and unexpected results
Sign Up to like & getrecommendations! Published in 2021 at "Autism Research"
DOI: 10.1002/aur.2486
Abstract: In this study, the aim was to examine patients with inborn errors of metabolism (IEM) who presented with only autism, without any other findings, to suggest any other neurological and genetic disorders. To investigate IEM,… read more here.
Keywords: metabolism; autism; dehydrogenase deficiency; errors metabolism ... See more keywords
Tip of the iceberg: A comprehensive review of liver disease in Inborn errors of immunity
Sign Up to like & getrecommendations! Published in 2022 at "Hepatology"
DOI: 10.1002/hep.32539
Abstract: Inborn errors of immunity (IEIs) consist of numerous rare, inherited defects of the immune system that affect about 500,000 people in the United States. As advancements in diagnosis through genetic testing and treatment with targeted… read more here.
Keywords: iceberg comprehensive; comprehensive review; liver; inborn errors ... See more keywords
B Vitamins: Small molecules, big effects
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12127
Abstract: The B vitamins comprise a group of eight water soluble vitamins (thiamine (B1), riboflavin (B2), niacin (B3), pantothenic acid (B5), pyridoxine (B6), biotin (B7), folate (B9) and cobalamin (B12)) with a myriad of cofactor roles… read more here.
Keywords: metabolism; deficiency; disease; cofactor ... See more keywords
Inborn errors of metabolite repair
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12187
Abstract: It is traditionally assumed that enzymes of intermediary metabolism are extremely specific and that this is sufficient to prevent the production of useless and/or toxic side‐products. Recent work indicates that this statement is not entirely… read more here.
Keywords: metabolite repair; classical metabolites; non classical; inborn errors ... See more keywords
Impact of enteral arginine supplementation on lysine metabolism in humans: A proof‐of‐concept for lysine‐related inborn errors of metabolism
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12233
Abstract: Patients with lysine‐related inborn errors of metabolism (pyridoxine‐dependent epilepsy [PDE] and glutaric aciduria type 1 [GA1]), follow a lysine‐restricted diet with arginine‐fortified lysine‐free amino acid formula and additional oral arginine supplementation as a newer therapy… read more here.
Keywords: lysine related; lysine; errors metabolism; arginine ... See more keywords
Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12533
Abstract: Inborn errors of metabolism are genetic disorders that need to be recognized as early as possible because treatment may be available. In late‐onset forms, core symptoms are movement disorders, psychiatric symptoms, and cognitive impairment. Eye… read more here.
Keywords: movement disorders; movement; inborn errors; errors metabolism ... See more keywords
Pediatric inborn errors of immunity causing hemophagocytic lymphohistiocytosis: Case report and review of the literature
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Leukocyte Biology"
DOI: 10.1002/jlb.5mr0622-037r
Abstract: Inborn errors of immunity are a group of genetic disorders caused by mutations that affect the development and/or function of several compartments of the immune system, predisposing patients to infections, autoimmunity, allergy and malignancies. In… read more here.
Keywords: inborn errors; review; hemophagocytic lymphohistiocytosis; case ... See more keywords
Ex vivo proton spectroscopy (1H‐NMR) analysis of inborn errors of metabolism: Automatic and computer‐assisted analyses
Sign Up to like & getrecommendations! Published in 2022 at "NMR in Biomedicine"
DOI: 10.1002/nbm.4853
Abstract: There are about 1500 genetic metabolic diseases. A small number of treatable diseases are diagnosed by newborn screening programs, which are continually being developed. However, most diseases can only be diagnosed based on clinical symptoms… read more here.
Keywords: vivo proton; inborn errors; errors metabolism; spectroscopy ... See more keywords
Inborn Errors of Metabolism: Refsum Disease.
Sign Up to like & getrecommendations! Published in 2018 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-3-319-95046-4_39
Abstract: Patient with Refsum disease present with nyctalopia, and the fundus shows progressive panretinal degeneration. Vision gradually decreases, with progressive peripheral constriction. The pupil usually does not dilate well. read more here.
Keywords: metabolism refsum; errors metabolism; disease; biology ... See more keywords
Genetic susceptibility to EBV infection: insights from inborn errors of immunity
Sign Up to like & getrecommendations! Published in 2020 at "Human Genetics"
DOI: 10.1007/s00439-020-02145-3
Abstract: Epstein–Barr virus (EBV) is a ubiquitous human pathogen, infecting > 90% of the adult population. In the vast majority of healthy individuals, infection with EBV runs a relatively benign course. However, EBV is by no means a… read more here.
Keywords: ebv infection; ebv; susceptibility; infection ... See more keywords
“Transcriptomics”: molecular diagnosis of inborn errors of metabolism via RNA-sequencing
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Inherited Metabolic Disease"
DOI: 10.1007/s10545-017-0133-4
Abstract: Exome wide sequencing techniques have revolutionized molecular diagnostics in patients with suspected inborn errors of metabolism or neuromuscular disorders. However, the diagnostic yield of 25–60% still leaves a large fraction of individuals without a diagnosis.… read more here.
Keywords: diagnosis; errors metabolism; rna sequencing; molecular diagnosis ... See more keywords