Results 81 to 90 of about 2,017,541 (209)
Orphanet Journal of Rare Diseases, 2021 Background Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare, autosomal recessive inborn errors of metabolism that require life-long medical treatment.
Majid Alfadhel +19 more
doaj +1 more source
Laboratory Generated Artifacts in Plasma Amino acid Quantitation [PDF]
, 2002 The pace of physicians’ involvement in amino acid metabolism has been enormous in the last five decades. With further development of technology to identify and quantitate upto picomoles of amino acids, their metabolites and related peptides, diagnosis ...
Rao Nanjunda, Mr Ananth
core +1 more source
Evidence of Oxidative Stress and Secondary Mitochondrial Dysfunction in Metabolic and Non-Metabolic Disorders [PDF]
, 2017 : Mitochondrial dysfunction and oxidative stress have been implicated in the pathogenesis of a number of diseases and conditions. Oxidative stress occurs once the antioxidant defenses of the body become overwhelmed and are no longer able to detoxify ...
Angermuller +25 more
core +1 more source
Peripheral Neuropathy Expands the Neurological Phenotype in Glutaric Aciduria Type 1
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT Glutaric aciduria type 1 (GA1) is a neurometabolic disorder characterized by striatal injury in infancy and extrastriatal central nervous system abnormalities, the latter depending on the biochemical subtype. Whether the peripheral nervous system (PNS) is also affected has not been systematically studied.
Fabian Preisner +8 more
wiley +1 more source
Neurophysiologic features in glutaric aciduria type I
The Turkish Journal of Pediatrics, 2005 Neurophysiologic abnormalities are frequently seen in organic acidemias, but knowledge of the specific changes in the different types of organic acidemias is lacking.
Dilek Yalnizoğlu +4 more
doaj
Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community
Molecular Genetics and Metabolism Reports, 2016 Propionic acidemia (PA) is an inborn error of protein metabolism with a variable clinical presentation ranging from neonatal encephalopathy to seemingly asymptomatic individuals who present with cardiomyopathy or sudden death.
Jessica Scott Schwoerer +3 more
doaj +1 more source
Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria [PDF]
, 2019 Methylmalonic acidemia (MMA) is a propionate pathway disorder caused by dysfunction of the mitochondrial enzyme methylmalonyl-CoA mutase (MMUT). MMUT catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA, an anaplerotic reaction which feeds into ...
Baumgartner, Matthias R +6 more
core +1 more source
ChildrenBackground: Expanded Newborn Screening (ENS) allows the early identification of many inherited metabolic diseases (IMDs) for which timely treatment can modify the natural history. For most IMDs, diagnosis by ENS is pre-clinical.
Giulia Montanari +6 more
doaj +1 more source
Survey of Italian pediatricians' perspectives and knowledge about neonatal screening [PDF]
, 2015 Background: The goal of newborn screening is early identification of babies with a high risk for disorders that may not be clinically evident at birth, but have severe consequences if untreated. New insight into inherited diseases and the ability to test
Burlina, A., CORSELLO, Giovanni
core +2 more sources
Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I [PDF]
, 2007 Glutaric acidemia type I (GA-I) is an inherited disorder of lysine and tryptophan metabolism presenting with striatal lesions anatomically and symptomatically similar to Huntington disease.
Banos +30 more
core +3 more sources