Residência Pediátrica, 2023 INTRODUCTION: Leucinosis or Maple Syrup Disease (MSD) is an innate metabolism error caused by a deficiency in the activity of the alpha-keto acid-dehydrogenase enzyme complex, which leads to the accumulation of essential branched-chain amino acids ...
Bruna Duque de Almeida Braga +4 more
doaj +1 more source
The Discovery of the Mode of Action of Nitisinone
Metabolites, 2022 This review briefly discusses the discovery of the mode of action of the triketone herbicide, 2-(2-nitro-4-trifluormethylbenzoyl)-1,3-cyclohexanedione and its use as a drug Nitisinone for the treatment of inborn errors of tyrosine metabolism.
Edward A. Lock
doaj +1 more source
Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China. [PDF]
PeerJTo determine the disease spectrum and genetic characteristics of inborn errors of metabolism (IEM) in Xinjiang province in the northwest of China, 41,690 newborn babies were screening by tandem mass spectrometry from November 2018 to December 2021.
Zhu J, Han L, Yang P, Feng Z, Xue S.
europepmc +3 more sources
Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention
Frontiers in Neuroscience, 2021 Increasing evidence suggests that the autism spectrum disorder (ASD) may be associated with inborn errors of metabolism, such as disorders of amino acid metabolism and transport [phenylketonuria, homocystinuria, S-adenosylhomocysteine hydrolase ...
Tamara Žigman +3 more
doaj +1 more source
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders [PDF]
, 2016 INTRODUCTION: Neurotransmitters are chemical messengers that enable communication between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis, breakdown and transport are a group of very rare neurometabolic diseases ...
Cortès Saladelafont, Elisenda +16 more
core +4 more sources
Citrullinemia and Hyperglycinemia Presenting with Seizures - Case Report of a 4 Day Old Baby
Asian Journal of Medical Sciences, 2013 Inborn errors of amino acid metabolism (IEM) are of concern in India, the spectrum being wide, varied and poorly diagnosed. Since aggregate incidence of inborn errors of metabolism is relatively high, in countries such as India, a high degree of ...
Moushumi Lodh
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
Breastfeeding in PKU and Other Amino Acid Metabolism Disorders-A Single Centre Experience. [PDF]
NutrientsIn addition to the numerous immunological and nutritional benefits that breast milk offers to infants, its proportion in the diet must be limited or even excluded in the case of inborn errors of amino acid metabolism (IEM). The objective of the study was
Kowalik A +4 more
europepmc +2 more sources
Non-Enzymatic Formation of N-acetylated Amino Acid Conjugates in Urine
Applied Sciences, 2023 Unknown N-acylated amino acid (N-AAA) conjugates have been detected in maple syrup urine disease (MSUD) and other inborn errors of metabolism (IEMs). This study aimed to elucidate the mechanism behind the formation of urinary N-AAA conjugates.
Jano Jacobs +5 more
doaj +1 more source
Out-of-pocket health expenditures in patients living with ınborn errors of metabolism
Orphanet Journal of Rare Diseases, 2023 Aim The implementation of newborn screening programs for inborn errors of metabolism has advanced the diagnosis and management of affected infants and undoubtedly improved their outcomes.
Mehmet Gündüz +2 more
doaj +1 more source