Enzyme or protein defect
Galactokinase
Accumulates or becomes deficient
Galactitol
Key features
Isolated cataracts, no hepatic or CNS disease
Management
Exclude galactose
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 · fetched just now · sorted by publication date
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1
The Spanish Uniform Newborn Screening Panel (SUSP): A National Consensus Framework for Harmonized Newborn Screening.
García-Villoria J, López-Galera RM, Delgado-Pecellín C, Rausell Félix D, Colón C, Rocha H, Pérez B, Ribes A, … · 2026-08-13
open access unreviewed -
2
Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians.
Rosenfeld EB, Kasatkin N, Yu BL, Velinov M, Brandt JS, Ashkinadze E. · 2026-04-09
open access unreviewed -
3
Expert consensus on the combined screening of genes and biomarkers for neonatal diseases.
Huang XW, Zhang T, Hu ZZ, Wang ZG, Luo XP, Yang YL, Han LS, Gu XF, Xiao GR, Zhu BS, Yang RL, Wang WP, Huang Y… · 2025-12-26
open access unreviewed -
4
Galactose mutarotase deficiency as the galactosemia type IV.
Wada Y, Aihara Y, Mikami-Saito Y, Suzuki T, Fujiki R, Ohara O, Kikuchi A, Kure S. · 2025-12-15
unreviewed -
5
Celebrating 50 Years of Nationwide Newborn Screening in Hungary-Review, Current Situation, and Future Directions.
Monostori P, Szatmári I, Baráth Á, Bókay J, Csenki M, Galla Z, Gellén B, Grecsó N, Gyüre E, Halász Z, Hegedűs… · 2025-10-27
open access unreviewed -
6
Bilateral implantation of a non-diffractive extended depth of focus intraocular lens in a pediatric patient with lamellar cataract.
Marinow SD, Kaiser KP, Wend J, Kohnen T. · 2025-09-18
cited 1× open access unreviewed -
7
Exploring the role of circ-GALK2 in vascular smooth muscle cell calcification: mechanisms and implications.
Jin T, Liu Y, Zong G, Sheng Y, Kong R, Hu X, Li H, Wang L, Chen L. · 2025-08-18
cited 1× open access unreviewed -
8
A prevalent MOCS2 variant in the Roma population is associated with a novel mild form of molybdenum cofactor deficiency.
Cho SK, Schwarz G, Tasic V, Křížková M, Krijt J, Roeper J, Honzík T, Šebesta I, Kožich V, Šaligová J, Pavelco… · 2025-07-25
cited 2× open access unreviewed -
9
Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes.
Jamaleddin T, El-Akouri K, Abiib S, Mitri R, Ramaswamy M, Musa S, Ali R, Shahbeck N, Al Rifai H, Abdoh G, Ben… · 2025-06-30
open access unreviewed -
10
Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability.
Veldman A, Sikkema-Raddatz B, Derks TGJ, van Karnebeek CDM, Kiewiet MBG, Mulder MF, Nelen MR, Rubio-Gozalbo M… · 2024-12-28
cited 8× open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.