Autism: Screening of inborn errors of metabolism and unexpected results
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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
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
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
“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
Contemporary scope of inborn errors of metabolism involving epilepsy or seizures
Sign Up to like & getrecommendations! Published in 2018 at "Metabolic Brain Disease"
DOI: 10.1007/s11011-018-0288-1
Abstract: Many inborn errors of metabolism may present with epilepsy or seizures, however, current scope of these diseases is unknown. Due to available precision medicine approaches in many inborn errors of metabolism and sophisticated traditional diagnostics,… read more here.
Keywords: metabolism involving; inborn errors; epilepsy seizures; errors metabolism ... See more keywords
Inborn Errors of Metabolism with Hepatopathy: Metabolism Defects of Galactose, Fructose, and Tyrosine.
Sign Up to like & getrecommendations! Published in 2018 at "Pediatric clinics of North America"
DOI: 10.1016/j.pcl.2017.11.008
Abstract: The liver is one of the most essential organs in metabolism and is responsible for metabolizing a wide variety of molecules from amino acids to sugars. Although it is responsible for many essential metabolic processes,… read more here.
Keywords: inborn errors; errors metabolism; galactose fructose; fructose tyrosine ... See more keywords
The impact of consanguinity on the frequency of inborn errors of metabolism
Sign Up to like & getrecommendations! Published in 2018 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2017.11.004
Abstract: Inborn errors of metabolism (IEM) are a heterogeneous group of genetic disorders present in all ethnic groups. We investigated the frequency of consanguinity among parents of newborns with IEM diagnosed by neonatal screening. Data were… read more here.
Keywords: impact consanguinity; consanguinity; frequency; errors metabolism ... See more keywords
Observational study of birth outcomes in children with inborn errors of metabolism
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DOI: 10.1038/s41390-022-01946-8
Abstract: We examined the birth outcomes of children with inborn errors of metabolism detected at birth or later in life. We carried out a retrospective cohort study of 1733 children with inborn errors of metabolism and… read more here.
Keywords: children inborn; errors metabolism; inborn errors; birth ... See more keywords
The role of exome sequencing in newborn screening for inborn errors of metabolism
Sign Up to like & getrecommendations! Published in 2020 at "Nature Medicine"
DOI: 10.1038/s41591-020-0966-5
Abstract: Public health newborn screening (NBS) programs provide population-scale ascertainment of rare, treatable conditions that require urgent intervention. Tandem mass spectrometry (MS/MS) is currently used to screen newborns for a panel of rare inborn errors of… read more here.
Keywords: exome sequencing; errors metabolism; newborn screening; inborn errors ... See more keywords