Evidence map›Paper›PMID 31029175›Full record

ArticleOrphanet journal of rare diseases2019

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

M E Rubio-Gozalbo, M Haskovic, A M Bosch, B Burnyte, A I Coelho, D Cassiman, M L Couce, C Dawson, D Demirbas, T Derks and 33 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
75citing papers in PubMed, 3 pooled it
11.0field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

75 citing papers in PubMed, 3 syntheses or guidelines pooled it, 147 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
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  4. Trial
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  6. Trial
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  8. Article
  9. Reproductive potential in classical galactosemia: A case series based perspective.European journal of obstetrics & gynecology and reproductive biology: X · 2026
    Article
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  12. Review
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  14. Translating the Power of Precision Medicine Into the World of Communication Disorders.Journal of speech, language, and hearing research : JSLHR · 2025
    Review
  15. Article
  16. Article
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  18. Article
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15 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

43 authors at 20 institutions in 15 countries.

M E Rubio-GozalboDepartment of Pediatrics and Clinical Genetics, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, P. Debyelaan 25, P.O. Box 5800, 6202 AZ, Maastricht, The Netherlands. estela.rubio@mumc.nl.ORCID 0000-0001-7182-4056
M HaskovicDepartment of Pediatrics and Clinical Genetics, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, P. Debyelaan 25, P.O. Box 5800, 6202 AZ, Maastricht, The Netherlands.
A M BoschAmsterdam UMC, University of Amsterdam, Pediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam, Netherlands.
B BurnyteInstitute of Biomedical Sciences of the Faculty of Medicine of Vilnius University, Vilnius, Lithuania.
A I CoelhoDepartment of Pediatrics and Clinical Genetics, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, P. Debyelaan 25, P.O. Box 5800, 6202 AZ, Maastricht, The Netherlands.
D CassimanMetabolic Center, Department of Gastroenterology-Hepatology, Leuven University Hospitals and KU Leuven, Leuven, Belgium.
M L CouceUnit of Diagnosis and Treatment of Congenital Metabolic Diseases, S. Neonatology, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, Spain.
C DawsonDepartment of Endocrinology, Queen Elizabeth Hospital Birmingham, London, UK.
D DemirbasManton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
T DerksSection of Metabolic Diseases, Beatrix Children's Hospital, and Groningen University Institute for Drug Exploration (GUIDE), University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
F EyskensAntwerp University Hospital, Antwerp, Belgium.
M T ForgaHospital Clinic Barcelona, Barcelona, Spain.
S GrunewaldMetabolic Medicine Department, Great Ormond Street Hospital, Institute for Child Health UCL, London, UK.
J HäberleDivision of Metabolism and Children's Research Center, University Children's Hospital, Zurich, Switzerland.
M HochuliDepartment of Endocrinology, Diabetes, and Clinical Nutrition, University Hospital Zurich, Zurich, Switzerland.
A HubertAPHP, HUPS, Hôpital Antoine Béclère, Centre de Référence Maladies Héréditaires Hépatiques, Clamart, France.
H H HuidekoperDepartment of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC-Sophia Children's Hospital, Rotterdam, The Netherlands.
P JaneiroDepartment of Pediatrics, Hospital Santa Maria, Centro Hospitalar Universitário Lisboa Norte EPE, Lisbon, Portugal.
J KotzkaInstitute for Clinical Biochemistry and Pathobiochemistry, German Diabetes Center, Leibniz Center for Diabetes Research at Heinrich Heine University, Düsseldorf, Germany.
I KnerrNational Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Temple Street, Dublin, Ireland.
P LabruneAPHP, HUPS, Hôpital Antoine Béclère, Centre de Référence Maladies Héréditaires Hépatiques, Clamart, France.
Y E LandauMetabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
J G LangendonkDepartment of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
D MöslingerDepartment for Pediatrics and Adolescent Medicine, Inborn Errors of Metabolism, Medical University of Vienna, Vienna, Austria.
D Müller-WielandClinical Research Center, Department of Medicine I, University Hospital RWTH Aachen, Aachen, Germany.
E MurphyCharles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.
K ÕunapDepartment of Clinical Genetics, United Laboratories and Institute of Clinical Medicine, Tartu University Hospital, Tartu, Estonia.
D RamadzaDepartment of Pediatrics, University Hospital Centre, Zagreb, Croatia.
I A RiveraResearch Institute for Medicines (iMed.ULisboa), and Department of Biochemistry and Human Biology, Faculty of Pharmacy, Universidade de Lisboa, Lisbon, Portugal.
S Scholl-BuergiUniversitätsklink für Pädiatrie, Tirol Kliniken GmbH, Innsbruck, Austria.
K M StepienMark Holland Metabolic Unit, Adult Inherited Metabolic Disorders Department, Salford Royal NHS Foundation Trust, Salford, M6 8HD, UK.
A ThijsVrije Universiteit Amsterdam, Internal Medicine, Amsterdam UMC, Amsterdam, Netherlands.
C TranCenter for Molecular Diseases, Division of Genetic Medicine, University Hospital Lausanne, Lausanne, Switzerland.
R VaraDepartment of Paediatric Inherited Metabolic Disease, Evelina London Children's Hospital, London, UK.
G VisserDepartment of Pediatrics, University Medical Centre Utrecht, Utrecht, The Netherlands.
R VosDepartment of Methodology and Statistics, CAPHRI School for Primary Care and Public Health, Faculty Health Medicine and Life Sciences, Maastricht, The Netherlands.
M de VriesDepartment of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands.
S E WaisbrenDepartment of Pediatrics, Division of Genomics and Genetics, Harvard Medical School and Boston Children's Hospital, Boston, USA.
M M Welsink-KarssiesAmsterdam UMC, University of Amsterdam, Pediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam, Netherlands.
S B WortmannUniversity Children's Hospital, Parcelsus Medical University (PMU), Salzburg, Austria.
M GautschiDepartment of Pediatrics and Institute of Clinical Chemistry, Inselspital, University Hospital Bern, Bern, Switzerland.
E P TreacyMetabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
G T BerryManton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Boston Children's Hospital · USMaastricht University Medical Centre · NLEmma Kinderziekenhuis · NLTel Aviv University · ILUniversité Paris-Sud · FRAmsterdam University Medical Centers · NLAntwerp University Hospital · BECentro Hospitalar Lisboa Norte · PTDeutsches Diabetes-Zentrum e.V. · DEErasmus MC · NLErasmus MC - Sophia Children’s Hospital · NLEvelina London Children's Healthcare · GBGreat Ormond Street Hospital · GBHospital Clínic de Barcelona · ESInstituto de Investigación Sanitaria de Santiago · ESKU Leuven · BEMedical University of Vienna · ATNational Hospital for Neurology and Neurosurgery · GBParacelsus Medical University · ATQueen Elizabeth Hospital Birmingham · GB

Funding

Batzebar foundation -British inherited Metabolic Disease Group -Dutch Galactosemia Research foundation -European Galactosemia Society -Galaktosamie Schweiz patient organization -Health Research Board -Metakids -Nederlandse Organisatie voor Wetenschappelijk Onderzoek -Spanish Galactosemia foundation -Stofwisselkracht -
6 · The paper itself

Abstract

backgroundClassic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). A galactose-restricted diet has proven to be very effective to treat the neonatal life-threatening manifestations and has been the cornerstone of treatment for this severe disease. However, burdensome complications occur despite a lifelong diet. For rare diseases, a patient disease specific registry is fundamental to monitor the lifespan pathology and to evaluate the safety and efficacy of potential therapies. In 2014, the international Galactosemias Network (GalNet) developed a web-based patient registry for this disease, the GalNet Registry. The aim was to delineate the natural history of classic galactosemia based on a large dataset of patients.

methodsObservational data derived from 15 countries and 32 centers including 509 patients were acquired between December 2014 and July 2018.

resultsMost affected patients experienced neonatal manifestations (79.8%) and despite following a diet developed brain impairments (85.0%), primary ovarian insufficiency (79.7%) and a diminished bone mineral density (26.5%). Newborn screening, age at onset of dietary treatment, strictness of the galactose-restricted diet, p.Gln188Arg mutation and GALT enzyme activity influenced the clinical picture. Detection by newborn screening and commencement of diet in the first week of life were associated with a more favorable outcome. A homozygous p.Gln188Arg mutation, GALT enzyme activity of ≤ 1% and strict galactose restriction were associated with a less favorable outcome.

conclusionThis study describes the natural history of classic galactosemia based on the hitherto largest data set.

Indexed as

AdolescentAdultCohort StudiesFemaleGalactosemiasHomozygoteHumansInfant, NewbornMaleMutationNeonatal ScreeningRegistriesRetrospective StudiesUTP-Hexose-1-Phosphate UridylyltransferaseYoung AdultUTP-Hexose-1-Phosphate UridylyltransferaseGalactosemiaGalactosemia networkGALT deficiencyNatural historyRegistry

Identifiers

PMID31029175
PMCPMC6486996
OpenAlexW2941271490

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.