Results 11 to 20 of about 3,097 (190)

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 Dis
ABSTRACT 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, Garrett OS, Fridovich-Keil JL.   +2 more
europepmc   +2 more sources

Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment. [PDF]

Biomolecules, 2022
Galactosemia is an inborn disorder of carbohydrate metabolism characterized by the inability to metabolize galactose, a sugar contained in milk (the main source of nourishment for infants), and convert it into glucose, the sugar used by the body as the ...
Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M.   +4 more
europepmc   +2 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 Dis
ABSTRACT 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, Niess F, Bogner W, Svatkova A, Herle M, Laußner L, Hingerl L, Strasser B, Pichler M, Konstantopoulou V, Hufgard-Leitner M, Buchinger D, Milenkovic I, Kautzky-Willer A, Stulnig T, Scherer T.   +15 more
europepmc   +2 more sources

Sepsis caused by Phytobacter diazotrophicus complicated with galactosemia type 1 in China: a case report. [PDF]

BMC Infect Dis
Background Phytobacter diazotrophicus ( P . diazotrophicus ) is an opportunistic pathogen that causes nosocomial outbreaks and sepsis. However, there are no reports of P. diazotrophicus isolated from human blood in China.
Lin J, Wu J, Gong L, Li X, Wang G.
europepmc   +2 more sources

A case report of classic galactosemia with a GALT gene variant and a literature review. [PDF]

BMC Pediatr
Background Galactosemia is an autosomal recessive disorder resulting from an enzyme defect in the galactose metabolic pathway. The most severe manifestation of classic galactosemia is caused by galactose-1-phosphate uridylyltransferase ( GALT ...
Wang YC, Lan LC, Yang X, Xiao J, Liu HX, Shan QW.   +5 more
europepmc   +2 more sources

The Importance of Neonatal Screening for Galactosemia. [PDF]

Nutrients, 2022
Galactosemia is an inborn metabolic disorder caused by a deficient activity in one of the enzymes involved in the metabolism of galactose. The first description of galactosemia in newborns dates from 1908, ever since complex research has been performed ...
Badiu Tișa I, Achim AC, Cozma-Petruț A.   +2 more
europepmc   +2 more sources

Health and well-being of maturing adults with classic galactosemia. [PDF]

J Inherit Metab Dis
Long‐term outcomes in classic galactosemia (CG) have been studied previously, but all prior studies have relied on cohorts of patients that were small in number, or heavily skewed toward children and young adults, or both.
Garrett OS, Druss JJ, Vos EN, Fu YD, Lucia S, Greenstein PE, Bauer A, Sykut-Cegielska J, Stepien KM, Arbuckle C, Grafakou O, Meyer U, Vanhoutvin N, Pané A, Bosch AM, Rubio-Gozalbo E, Berry GT, Fridovich-Keil JL.   +17 more
europepmc   +2 more sources

Current and Future Treatments for Classic Galactosemia. [PDF]

J Pers Med, 2021
Type I (classic) galactosemia, galactose 1-phosphate uridylyltransferase (GALT)-deficiency is a hereditary disorder of galactose metabolism. The current therapeutic standard of care, a galactose-restricted diet, is effective in treating neonatal ...
Delnoy B, Coelho AI, Rubio-Gozalbo ME.
europepmc   +2 more sources

Biomarker discovery in galactosemia: Metabolomics with UPLC/HRMS in dried blood spots

Frontiers in Molecular Biosciences, 2023
Introduction:Galactosemia (GAL) is a genetic disorder that results in disturbances in galactose metabolism and can lead to life-threatening complications. However, the underlying pathophysiology of long-term complications in GAL remains poorly understood.
Ahmad N. Alodaib, Refat M. Nimer, Rowan Alhumaidy, Alaa Alhenaky, Mai Abdel Jabar, Reem H Almalki, Anas M. Abdel Rahman   +6 more
semanticscholar   +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