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Galactosemia 

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  1. 13-09-2023 | Galactosemia | ReviewPaper

    Classical Hereditary galactosemia: findings in patients and animal models

    Classic galactosemia is a rare inborn error of metabolism that affects the metabolism of galactose, a sugar derived from milk and derivates. Classic galactosemia is caused by variants of the GALT gene, which lead to absent or misfolded forms of …

  2. Open Access 01-12-2023 | Galactosemia | OriginalPaper

    The challenges of classical galactosemia: HRQoL in pediatric and adult patients

    Classical galactosemia (CG; OMIM 230400) is an autosomal recessive inborn error of galactose metabolism with an incidence of 1:53.000 in the Netherlands [ 1 ]. A severe deficiency of the enzyme galactose-1-phosphate-uridyltransferase ( GALT ; EC …

  3. 21-04-2023 | Cataract | Letter

    Lathosterolosis - A Rare Treatable Cause for Global Developmental Delay, Cataract, and Liver Dysfunction Masquerading as Galactosemia

  4. Open Access 01-12-2022 | Primary Ovarian Insufficiency | OriginalPaper

    Early postnatal alterations in follicular stress response and survival in a mouse model of Classic Galactosemia

    Primary ovarian insufficiency is characterized by accelerated loss of primordial follicles, which results in ovarian failure and concomitant menopause before age 40. About 1–3% of females in the general population are diagnosed with POI; however …

  5. Open Access 01-12-2022 | Tremor | OriginalPaper

    Qualitative interviews with adults with Classic Galactosemia and their caregivers: disease burden and challenges with daily living

    Galactosemia is a rare autosomal recessive condition with mutations in the enzymes involved in the Le Loir pathway of galactose metabolism. Classic Galactosemia, also known as Type I Galactosemia, is a result of galactose-1-phosphate …

  6. Open Access 01-12-2020 | Neonatal Screening | OriginalPaper

    Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities

    Classical Galactosemia (CG, OMIM 230400) is an autosomal recessive inborn error of galactose metabolism, caused by a deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT, EC 2.7.7.12). The ingestion of galactose from breastmilk …

  7. Open Access 01-12-2020 | Galactosemia | Erratum

    Correction to: Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities

    An amendment to this paper has been published and can be accessed via the original article.

  8. Open Access 01-12-2019 | Galactosemia | ReviewPaper

    Cognitive functioning in patients with classical galactosemia: a systematic review

    Classical galactosemia (CG; OMIM: 230400) is a rare autosomal recessive metabolic disorder with an incidence between 1:16.000 and 1:60.000 in Europe and the USA [ 1 ]. The disorder is caused by a deficiency of galactose-1-phosphate …

  9. Open Access 01-12-2019 | Primary Ovarian Insufficiency | OriginalPaper

    The natural history of classic galactosemia: lessons from the GalNet registry

    Classic galactosemia (CG, OMIM # 230400) is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT, E.C. 2.7.7.12). GALT is the second enzyme in the Leloir …

  10. Open Access 01-12-2019 | Galactosemia | OriginalPaper

    Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia

    Classical galactosemia (CG; OMIM #230400) is a rare disorder affecting the galactose metabolism. It is autosomal-recessively inherited and caused by a profound deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT; EC 2.7.7.12) [ 1 …]. Together with two other enzymes: galaktokinase (GALK) and UDP-galactose epimerase (GALE), GALT is part of the Leloir pathway that metabolizes ingested galactose into glucose-1-phosphate used for energy and into UDP-galactose which is used for glycosylation of complex molecules. In untreated CG patients, galactose, galactose-1-phosphate, galactitol and galactonate accumulate in body tissues and fluids [

  11. Open Access 01-09-2018 | OriginalPaper

    Intrafamilial oocyte donation in classic galactosemia: ethical and societal aspects

    Classic galactosemia is a rare inherited disorder of galactose metabolism. Primary ovarian insufficiency (POI) with subfertility affects > 80% of female patients and is an important concern for patients and their parents. Healthcare providers are …

  12. 01-09-2018 | OriginalPaper

    Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia

    Classic galactosemia (CG) is an inherited metabolic disorder that affects about 1 in 50,000 live births in the United States and many other countries. With the benefit of early detection by newborn screening and rapid dietary restriction of …

  13. Open Access 01-12-2018 | OriginalPaper

    Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research

    Deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT; EC 2.7.7.12) causes classical galactosemia (OMIM # 230400), an autosomal recessive inborn error of galactose metabolism. Despite early start of and good compliance with the …

  14. Open Access 01-12-2018 | OriginalPaper

    Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia

    Classic galactosemia (CG) (OMIM #230400) is a rare metabolic disease caused by a severe deficiency of galactose-1-phosphate uridylyltransferase (GALT), the second enzyme of the main pathway for galactose metabolism. It is an autosomal recessive …

  15. 01-07-2018 | OriginalPaper

    Cryopreservation of ovarian tissue may be considered in young girls with galactosemia

    Galactosemia is an autosomal recessive genetic disorder in the metabolism of galactose caused by impaired activity of galactose-1-phosphate uridyltransferase (GALT). Complete deficiency or severely reduced activity of GALT causes classical …

  16. 01-03-2018 | OriginalPaper

    Biochemical changes and clinical outcomes in 34 patients with classic galactosemia

    Impaired activity of galactose-1-phosphate uridyltransferase (GALT) causes galactosemia, an autosomal recessive disorder of galactose metabolism. Early initiation of a galactose-restricted diet can prevent or resolve neonatal complications.

  17. Open Access 01-01-2018 | OriginalPaper

    Impaired fertility and motor function in a zebrafish model for classic galactosemia

    Classic galactosemia is a genetic disorder of galactose metabolism, caused by severe deficiency of galactose-1-phosphate uridylyltransferase (GALT) enzyme activity due to mutations of the GALT gene. Its pathogenesis is still not fully elucidated …

  18. 01-01-2018 | ReviewPaper

    Primary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities

    Classic galactosemia is an inborn error of the metabolism with devastating consequences. Newborn screening has been successful in markedly reducing the acute neonatal symptoms from this disorder. The dramatic response to dietary treatment is one …

  19. 01-03-2017 | Letter

    The galactosemia network (GalNet)

  20. Open Access 01-05-2017 | ReviewPaper

    Sweet and sour: an update on classic galactosemia

    Classic galactosemia is a rare inherited disorder of galactose metabolism caused by deficient activity of galactose-1-phosphate uridylyltransferase (GALT), the second enzyme of the Leloir pathway. It presents in the newborn period as a …

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