Classic galactosaemia
Enzyme or protein defect
Galactose-1-phosphate uridylyltransferase
Accumulates or becomes deficient
Galactose-1-phosphate, galactitol
Key features
Cataracts, jaundice, hepatomegaly, intellectual disability, E. coli sepsis
Management
Exclude galactose and lactose
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
Europe PMC · from cache · sorted by publication date
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1
Approach to Renal Tubular Acidosis - A Review.
Das S, Agarwal V, Paul TV, Cherian KE. · 2026-01-01
open access unreviewed -
2
Dietetic management of adults with Classical Galactosaemia in the UK: A care consensus document.
Robertson L, Tapley S, Sparks A, McDonald J, Condie E, Bailey S. · 2025-11-14
open access unreviewed -
3
Delivering the Message: Translating mRNA Therapy for Liver Inherited Metabolic Diseases.
Gurung S, Perocheau D, Ghosh R, Hart SL, Baruteau J. · 2025-09-01
cited 5× open access unreviewed -
4
RNA-based therapies in liver metabolic diseases.
Fontanellas A, Berraondo P, Urigo F, Jericó D, Martini PGV, Pastor F, Avila MA. · 2025-08-07
cited 12× open access unreviewed -
5
Intellectual Disabilities and Neurocognitive Impairment in Adult Patients with Inherited Metabolic Diseases: A UK Single Centre Experience.
Warner-Levy J, Heald AH, Hand D, Sharma R, Thomasson R, Stepien KM. · 2024-07-15
open access unreviewed -
6
Inherited metabolic disorders in Cyprus.
Georgiou T, Petrou PP, Malekkou A, Ioannou I, Gavatha M, Skordis N, Nicolaidou P, Savvidou I, Athanasiou E, O… · 2024-04-23
cited 3× open access unreviewed -
7
Lactose and Galactose Content in Spanish Cheeses: Usefulness in the Dietary Treatment of Patients with Galactosaemia.
Vitoria I, Melendreras F, Vázquez-Palazón A, Rausell D, Correcher P, González-Lamuño D, García-Peris M. · 2023-01-23
cited 2× open access unreviewed -
8
Assessing the Content Quality of Online Parental Resources about Newborn Metabolic Disease Screening: A Content Analysis.
Ngan OMY, Wong WK, Tam JC, Li CK. · 2022-11-30
cited 2× open access unreviewed -
9
Adrenal insufficiency due to high doses of maternal corticosteroid treatment in a premature baby.
Blondel F, Pierron C, Scalais E, Becker M. · 2022-08-03
cited 1× unreviewed -
10
Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe.
Jones SA, Cheillan D, Chakrapani A, Church HJ, Heales S, Wu THY, Morton G, Roberts P, Sluys EF, Burlina A. · 2022-03-15
cited 15× open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.