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
Pyruvate dehydrogenase deficiency disease detected by the enzyme activity of peripheral leukocytes
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1728
Abstract: Pyruvate dehydrogenase complex (PDHC) deficiency is a common neurodegenerative disease associated with abnormal mitochondrial energy metabolism. The diagnosis of PDHC is difficult because of the lack of a rapid, accurate, and cost‐effective clinical diagnostic method. read more here.
Keywords: disease detected; dehydrogenase deficiency; deficiency; deficiency disease ... See more keywords
Infant with early onset bilateral facial and bulbar weakness: Successful treatment of riboflavin in multiple acyl-CoA dehydrogenase deficiency caused by biallelic nonsense FLAD1 variants
Sign Up to like & getrecommendations! Published in 2021 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2021.07.006
Abstract: Multiple acyl-CoA dehydrogenase deficiency (MADD) is a heterogeneous group of inborn error of metabolic disease affecting the oxidation of fatty acids and amino acids, and choline metabolism. Genes involved in electrons transfer to the mitochondrial… read more here.
Keywords: dehydrogenase deficiency; flad1; acyl coa; coa dehydrogenase ... See more keywords
Retinol dehydrogenase 13 deficiency diminishes carbon tetrachloride-induced liver fibrosis in mice.
Sign Up to like & getrecommendations! Published in 2017 at "Toxicology letters"
DOI: 10.1016/j.toxlet.2016.11.010
Abstract: Retinol dehydrogenase 13 (RDH13) is a mitochondrion-localized member of the short-chain dehydrogenases/reductases (SDRs) superfamily that participates in metabolism of some compounds. Rdh13 mRNA is most highly expressed in mouse liver. Rdh13 deficiency reduces the extent… read more here.
Keywords: retinol dehydrogenase; fibrosis; dehydrogenase deficiency; deficiency diminishes ... See more keywords
Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth case.
Sign Up to like & getrecommendations! Published in 2020 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2020.01.005
Abstract: Methylmalonate semialdehyde dehydrogenase deficiency (MMSDD; MIM 614105) is a rare autosomal recessive defect of valine and pyrimidine catabolism. Four prior MMSDD cases are published. We present a fifth case, along with functional and metabolomic analysis.… read more here.
Keywords: methylmalonate semialdehyde; fifth case; semialdehyde dehydrogenase; dehydrogenase deficiency ... See more keywords
Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenase Deficiency Associated with Hepatoencephalomyopathy and White Matter Signal Abnormalities on Brain MRI.
Sign Up to like & getrecommendations! Published in 2017 at "Neuropediatrics"
DOI: 10.1055/s-0037-1601447
Abstract: Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inborn error of metabolism affecting both fatty acid and amino acid oxidation. It can manifest at any age, but riboflavin-responsiveness has mainly been described in less severely… read more here.
Keywords: coa dehydrogenase; dehydrogenase; dehydrogenase deficiency; acyl coa ... See more keywords
Exploring the contribution of mitochondrial dynamics to multiple acyl-CoA dehydrogenase deficiency-related phenotype
Sign Up to like & getrecommendations! Published in 2019 at "Archives of Physiology and Biochemistry"
DOI: 10.1080/13813455.2019.1628065
Abstract: Abstract Mitochondrial fatty acid β-oxidation disorders (FAOD) are among the diseases detected by newborn screening in most developed countries. Alterations of mitochondrial functionality are characteristic of these metabolic disorders. However, many questions remain to be… read more here.
Keywords: coa dehydrogenase; dehydrogenase deficiency; acyl coa; related phenotype ... See more keywords
Does glucose-6-phosphate dehydrogenase deficiency worsen the clinical features of sickle cell disease? A multi-hospital-based cross-sectional study
Sign Up to like & getrecommendations! Published in 2022 at "Hematology"
DOI: 10.1080/16078454.2022.2074715
Abstract: ABSTRACT Background The impact of glucose-6-phosphate dehydrogenase deficiency(G-6-PD) on the clinical course of sickle cell disease(SCD) is still controversial. The objectives of this study were to determine the prevalence of G-6-PD deficiency in patients with… read more here.
Keywords: dehydrogenase deficiency; scd; glucose phosphate; phosphate dehydrogenase ... See more keywords
Parvovirus B19-associated Hemophagocytic Lymphohistiocytosis in a Patient With Glucose-6-phosphate Dehydrogenase Deficiency.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000001109
Abstract: We report a case of a 12-year-old male with glucose-6-phosphate dehydrogenase deficiency presenting with clinical signs of sepsis and pancytopenia. Investigations revealed parvovirus B19 (PVB19)-associated hemophagocytic lymphohistiocytosis (HLH). The patient recovered fully and quickly with… read more here.
Keywords: associated hemophagocytic; dehydrogenase deficiency; phosphate dehydrogenase; glucose phosphate ... See more keywords
Glucose‐6‐phosphate dehydrogenase deficiency induced haemolysis in a woman with newly diagnosed diabetes after normalisation of hyperglycaemia
Sign Up to like & getrecommendations! Published in 2017 at "Diabetic Medicine"
DOI: 10.1111/dme.13385
Abstract: The association between diabetes and G6PD deficiency is still a matter of debate. Hemolysis due to G6PD deficiency in people with diabetes has been reported, but is uncommon. To date, twenty‐three cases have been reported… read more here.
Keywords: induced haemolysis; dehydrogenase deficiency; phosphate dehydrogenase; glucose phosphate ... See more keywords
The presence and severity of epilepsy coincide with reduced γ‐aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency
Sign Up to like & getrecommendations! Published in 2023 at "Epilepsia"
DOI: 10.1111/epi.17592
Abstract: Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare inherited metabolic disorder caused by a defect of γ‐aminobutyrate (GABA) catabolism. Despite the resultant hyper‐GABAergic environment facilitated by the metabolic defect, individuals with this disorder have a… read more here.
Keywords: dehydrogenase deficiency; succinic semialdehyde; semialdehyde dehydrogenase; epilepsy ... See more keywords