High-Throughput Sequencing Reveals the Loss-of-Function Mutations in GALT Cause Recessive Classical Galactosemia [PDF]
Frontiers in Pediatrics, 2020 Background: Classical Galactosemia (CG) is a rare autosomal recessive metabolic disease caused by mutations in the galactose-1-phosphate uridyl transferase (GALT) gene.
Lulu Li +7 more
doaj +4 more sources
The challenges of classical galactosemia: HRQoL in pediatric and adult patients [PDF]
Orphanet Journal of Rare Diseases, 2023 Background Classical galactosemia (CG), an inborn error of galactose metabolism, results in long-term complications including cognitive impairment and movement disorders, despite early diagnosis and dietary treatment.
Merel E. Hermans +6 more
doaj +2 more sources
Cognitive functioning in patients with classical galactosemia: a systematic review [PDF]
Orphanet Journal of Rare Diseases, 2019 Background Patients with the metabolic disorder classical galactosemia suffer from long-term complications despite a galactose-restricted diet, including a below average intelligence level.
Merel E. Hermans +4 more
doaj +2 more sources
Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach [PDF]
International Journal of Neonatal Screening, 2023 In the UK, Classical Galactosaemia (CG) is identified incidentally from the Newborn Screening (NBS) for phenylketonuria (PKU) using an “Other disorder suspected” (ODS) pathway when phenylalanine (Phe) and tyrosine (Tyr) concentrations are increased.
Nathan W. P. Cantley +14 more
doaj +2 more sources
Abnormal N‐glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake [PDF]
JIMD Reports, 2021 Background Classical galactosemia (CG) (OMIM #230400) is a rare disorder of carbohydrate metabolism, due to deficiency of galactose‐1‐phosphate uridyltransferase (EC 2.7.7.12).
Eileen P. Treacy +11 more
doaj +2 more sources
Correction to: Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities [PDF]
Orphanet Journal of Rare Diseases, 2020 An amendment to this paper has been published and can be accessed via the original article.
Mendy M. Welsink-Karssies +10 more
doaj +2 more sources
Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities [PDF]
Orphanet Journal of Rare Diseases, 2020 Background Despite early diagnosis and treatment, Classical Galactosemia (CG) patients frequently develop long-term complications, such as cognitive impairment.
Mendy M. Welsink-Karssies +10 more
doaj +2 more sources
Unusual Presentation of Classical Galactosemia: A Case Report of Iranian Experience [PDF]
Clinical Case ReportsGalactosemia is a rare autosomal recessive metabolic disorder with four main types, and classic galactosemia is the most prevalent. These patients have galactose‐1‐phosphate‐uridyltransferase deficiency.
Mohammadreza Alaee +4 more
doaj +2 more sources
Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia [PDF]
Orphanet Journal of Rare Diseases, 2019 Background Classical galactosemia (CG) is due to a severe deficiency of the galactose-1-phosphate uridyl-transferase (GALT), the main enzyme of galactose metabolism.
Mirjam Korner +5 more
doaj +2 more sources
Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment
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 ...
Mariangela Succoio +4 more
doaj +3 more sources