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
Long-term complications in classic galactosemia are not progressive. [PDF]
Mol Genet Metab, 2023 Classic galactosemia (CG) is a potentially lethal genetic disorder that results from profound deficiency of galactose-1-P uridylyltransferase. Despite early detection and life-long dietary restriction of galactose, which is the current standard of care, many patients with CG grow to experience a range of long-term developmental complications that can ...
Smith NH +8 more
europepmc +3 more sources
Results of the ACTION‐Galactosemia Kids Study to Evaluate the Effects of Govorestat in Pediatric Patients with Classic Galactosemia [PDF]
Journal of Clinical Pharmacologyexaly +2 more sources
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 +2 more sources
Transient Cytopenias as a Rare Presentation of Classic Galactosemia. [PDF]
Cureus, 2022 Although galactosemia can be detected through neonatal screening, some cases are characterized by rapid and severe presentation before screening results become available. We report the case of a neonate with classic galactosemia presenting with acute liver failure and cytopenias (thrombocytopenia, anemia, and neutropenia).
Gianniki M +4 more
europepmc +3 more sources
Novel mRNA-Based Therapy Reduces Toxic Galactose Metabolites and Overcomes Galactose Sensitivity in a Mouse Model of Classic Galactosemia [PDF]
Molecular Therapy, 2020 Kent Lai, Bijina Balakrishnan
exaly +2 more sources
Hand fine motor control in classic galactosemia. [PDF]
J Inherit Metab Dis, 2021 AbstractClassic galactosemia (CG) is a rare inborn error of metabolism that results from profound deficiency of galactose‐1‐P uridylyltransferase (GALT). Despite early detection and rapid and lifelong dietary restriction of galactose, which is the current standard of care, most patients grow to experience a broad range of complications that can include
MacWilliams J +5 more
europepmc +3 more sources
, 2020 Newborns with classic galactosemia present with life-threatening symptoms upon exposure to galactose-containing milk. These symptoms can be quickly resolved by early initiation of a galactose- restricted diet. However, the long-term outcome is disappointing, many patients develop complications affecting brain, gonads and, to a lesser extent, bone ...
openaire +4 more sources
The genetic basis of classical galactosaemia in Polish patients
Orphanet Journal of Rare Diseases, 2021 Classic galactosemia (OMIM #230400) is an autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in the galactose-1-phosphate uridylyltransferase gene (GALT; 606999) on chromosome 9p13. Its diagnosis is established
Aleksandra Jezela-Stanek +5 more
doaj +1 more source
Gastrointestinal Health in Classic Galactosemia. [PDF]
JIMD Rep, 2017 Classic galactosemia (CG) is an autosomal recessive disorder of galactose metabolism that affects approximately 1/50,000 live births in the USA. Following exposure to milk, which contains large quantities of galactose, affected infants may become seriously ill.
Shaw KA +3 more
europepmc +4 more sources