Pretreatment With a Selected Strain of Baker's Yeast, GY007, Prevents the Accumulation of Galactose Metabolites Following Dietary Galactose Exposure in a GALT-Null Rat Model of Classic Galactosemia. [PDF]
J Inherit Metab DisABSTRACT The current standard of care for patients with classic galactosemia (CG) involves lifelong dietary restriction of high galactose foods, including most dairy products. Here, we present the results of a pilot study testing whether pretreatment with GY007, a strain of baker's yeast selected to metabolize galactose despite the presence of other ...
Rasmussen SA +2 more
europepmc +4 more sources
Myo-Inositol Deficiency, Structural Brain Changes, and Cerebral Perfusion Alterations in Classic Galactosemia: Preliminary Insights From a Multiparametric MRI Study. [PDF]
J Inherit Metab DisABSTRACT Classic galactosemia is a rare metabolic disorder resulting from galactose‐1‐phosphate uridylyltransferase deficiency, which disrupts normal galactose metabolism, leading to toxic accumulation of galactose‐1‐phosphate and galactitol. Despite early dietary intervention, patients remain at risk for long‐term neurological impairments, including ...
Niess E +15 more
europepmc +2 more sources
Experiences with galactosemia in Croatia [PDF]
Liječnički vjesnik, 2023 The aim of our study was to describe the characteristics of patients with classical galactosemia in Croatia, with the description of patients with galactokinase deficiency and a patient who was a double heterozygote for mutations of the galactose-1 ...
Ana Šmaguc +18 more
doaj +1 more source
Drosophila melanogaster Models of Galactosemia. [PDF]
Curr Top Dev Biol, 2017 Daenzer JM, Fridovich-Keil JL.
europepmc +2 more sources
Galactosemia como causa de ictericia neonatal
Revista de la Facultad de Medicina, 2014 La ictericia es un problema muy frecuente en las unidades de recién nacidos. En este documento se presenta el caso de un neonato que cursó con hiperbilirrubinemia, inicialmente con predominio de la bilirrubina indirecta y posteriormente con anemia ...
Mery Yolanda Cifuentes Cifuentes +2 more
doaj +1 more source
Optimization of established and assessment of novel newborn screening strategies in the Netherlands [PDF]
, 2021 Newborn screening (NBS) is an important method for prevention of long-term health consequences or premature death in newborns with inherited disorders.
Stroek, K.
core +2 more sources
Cadernos de Saúde Pública, 2011 Este trabalho avalia a eficiência da adição do exame da galactosemia junto ao Teste do Pezinho. Baseado na incidência média estimada de galactosemia, de 1:19.984 recém-nascidos, no Estado de São Paulo, Brasil, este estudo desenvolve um modelo de análise ...
José Simon Camelo Junior +7 more
doaj +1 more source
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening [PDF]
, 2023 The Wilson and Jungner (W&J) and Andermann criteria are meant to help select diseases eligible for population-based screening. With the introduction of next-generation sequencing (NGS) methods for newborn screening (NBS), more inherited metabolic ...
Bosch, Annet M. +23 more
core +2 more sources
Plasma coenzyme Q10 status is impaired in selected genetic conditions. [PDF]
, 2019 Identifying diseases displaying chronic low plasma Coenzyme Q10 (CoQ) values may be important to prevent possible cardiovascular dysfunction. The aim of this study was to retrospectively evaluate plasma CoQ concentrations in a large cohort of pediatric ...
Artuch, R +17 more
core +4 more sources
MouseCyc: a curated biochemical pathways database for the laboratory mouse [PDF]
, 2009 MouseCyc is a database of curated metabolic pathways for the laboratory ...
Bult, Carol J +4 more
core +2 more sources