Perinatal Gene Transfer to the Liver [PDF]
, 2011 The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM +6 more
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Unique neuroradiological findings in propionic acidemia
Radiology Case Reports, 2018 Propionic acidemia is a rare metabolic disorder that affects the catabolism of branched-chain amino acids and oddchain fatty acids. Propionic acidemia is one of the least common organic acidemias.
Cory M. Pfeifer, MD, MS +2 more
doaj +1 more source
Detection of glutaric acidemia type 1 in infants through tandem mass spectrometry
Molecular Genetics and Metabolism Reports, 2015 Glutaric acidemia type 1 (GA1) is a rare inherited metabolic disorder which goes underdiagnosed due to its latency period and subtle presentation. A pilot clinical study was conducted to assess the usefulness, specificity and sensitivity of the tandem ...
Ruby P. Babu +6 more
doaj +1 more source
Inhibition of cytochrome c oxidase activity in rat cerebral cortex and human skeletal muscle by d-2-hydroxyglutaric acid in vitro [PDF]
, 1926 l-2-Hydroxyglutaric (LGA) and d-2-hydroxyglutaric (DGA) acids are the characteristic metabolites accumulating in the neurometabolic disorders known as l-2-hydroxyglutaric aciduria and d-2-hydroxyglutaric aciduria, respectively.
da Silva, Cleide G +8 more
core +1 more source
Methylmalonic Aciduria in Children: Clinical Recommendations
Педиатрическая фармакология, 2017 Methylmalonic acidemia (aciduria) is an inherited metabolic disturbance from the group of organic acidemias (acidurias). The article presents etiopathogenetic, epidemiological, diagnostic, and therapeutic aspects of the problem.
Alexander A. Baranov +16 more
doaj +1 more source
Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics. [PDF]
, 2019 Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies ...
Fiehn, Oliver +2 more
core +2 more sources
Not So Rare: Errors of Metabolism during the Neonatal Period
, 2003 During the neonatal period, the diagnosis of an error of metabolism (EM) was once thought to portend a poor prognosis or lethality. Over the past two decades, the prognosis of many EMs has changed.
Banta-Wright, Sandra, Steiner, Robert D.
core +1 more source
Nutrition process improvements for adult inpatients with inborn errors of metabolism using the i-PARIHS framework [PDF]
, 2019 This project aimed to implement consensus recommendations and innovations that improve dietetic services to promote timely referral to optimise nutritional management for adult inpatients with inborn errors of metabolism (IEM).The i-PARIHS framework was ...
Mcgill, Jim +4 more
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Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation [PDF]
, 2010 Objective Mitochondrial disturbances of energy-generating systems in childhood are a heterogeneous group of disorders. The aim of this multi-site survey was to characterise the natural course of a novel mitochondrial disease with ATP synthase deficiency ...
Bodamer, O +15 more
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Acute Pancreatitis with Rapid Clinical Improvement in a Child with Isovaleric Acidemia
Case Reports in Pediatrics, 2013 Isovaleric acidemia is a rare branched-chain organic acidemia. The authors describe a 3.5-year-old girl with isovaleric acidemia and acute abdominal pain associated with bilious emesis.
Elpis Mantadakis +4 more
doaj +1 more source