☆ 4.7 Review

Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment

BIOMOLECULES (2022)

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Review Biochemistry & Molecular Biology

Gene therapy and gene correction: targets, progress, and challenges for treating human diseases

Matthew R. Cring et al.

Summary: The field of gene therapy has made significant progress in treating previously untreatable genetic diseases. However, there are still challenges to overcome in terms of safety and effectiveness. Gene correction using CRISPR-Cas9 has received considerable attention and shows promise as a potential approach beyond traditional gene therapies. It is likely that these therapies will become first-line treatments and have a positive impact on patients with genetic disorders.

GENE THERAPY (2022)

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Article Endocrinology & Metabolism

AAV-mediated expression of galactose-1-phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts

Megan L. Brophy et al.

Summary: Classic galactosemia is a rare genetic disorder caused by gene mutations. A study has shown that gene therapy using AAV can restore enzyme activity and prevent cell stress and injury. Furthermore, it was found that AAV-mediated GALT expression can restore cellular homeostasis factors in CG patients and demonstrate proof-of-concept restoration of galactose metabolism in a mouse model.

JOURNAL OF INHERITED METABOLIC DISEASE (2022)

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Article Endocrinology & Metabolism

Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia

Jennifer M. I. Daenzer et al.

Summary: The study demonstrates the promising metabolic and phenotypic efficacy of neonatal GALT gene replacement in a rat model of classic galactosemia. Treatment with AAV9-hGALT dramatically improves galactose metabolites in plasma, liver, and brain of treated rats. The study also suggests that limiting galactose intake after weaning can continue to provide metabolic rescue for GALT-null rats into adulthood.

JOURNAL OF INHERITED METABOLIC DISEASE (2022)

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Article Pediatrics

Presentation of Congenital Portosystemic Shunts in Children

Atessa Bahadori et al.

Summary: Congenital portosystemic shunts (CPSS) are rare vascular anomalies that can present at any age, mimicking common and rare pediatric conditions. Liver Doppler US is key for diagnosis. Prompt referral to a specialized center for CPSS work-up is crucial for patient outcome.

CHILDREN-BASEL (2022)

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Article Endocrinology & Metabolism

Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia

Britt Delnoy et al.

Summary: This study investigates the potential of human GALT mRNA therapy for classic galactosemia using a zebrafish model. The results demonstrate that mRNA injections can restore GALT protein and enzyme activity, while reducing the accumulation of metabolites caused by the deficiency.

JOURNAL OF INHERITED METABOLIC DISEASE (2022)

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Article Genetics & Heredity

Galactokinase deficiency: lessons from the GalNet registry

M. Estela Rubio-Gozalbo et al.

Summary: GALK1 deficiency can lead to neonatal elevation of transaminases, bleeding diathesis, and encephalopathy in addition to cataract. Most patients show enzyme activities <= 1% at diagnosis, with a variety of gene mutations, mainly NM_000154.1:c.82C>A (p.Pro28Thr). Thirty-five patients were diagnosed through newborn screening, which was found to be beneficial.

GENETICS IN MEDICINE (2021)

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Article Endocrinology & Metabolism

A pilot study of neonatalGALTgene replacement usingAAV9dramatically lowers galactose metabolites in blood, liver, and brain and minimizes cataracts inGALT-null rat pups

Shauna A. Rasmussen et al.

Summary: Classic galactosemia is a rare metabolic disorder caused by GALT deficiency. Current standard treatment involves dietary restrictions, but long-term complications still occur. This study demonstrates the feasibility and effectiveness of GALT gene replacement therapy in restoring GALT levels in both liver and brain of GALT-null rats.

JOURNAL OF INHERITED METABOLIC DISEASE (2021)

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Article Medicine, General & Internal

Galactokinase deficiency: a treatable cause of bilateral cataracts

Catarina Cordeiro et al.

Summary: This case report highlights a 12-month-old girl with bilateral nuclear cataracts caused by a deficiency in galactokinase (GALK1). The identification of a pathogenic genetic variant and missense mutation through GALK1 gene study led to dietary measures and good prognosis for the patient.

BMJ CASE REPORTS (2021)

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Review Health Care Sciences & Services

Current and Future Treatments for Classic Galactosemia

Britt Delnoy et al.

Summary: Type I classical galactosemia is a hereditary disorder caused by a deficiency of galactose 1-phosphate uridylyltransferase (GALT). The current standard of care, a galactose-restricted diet, is effective but not sufficient in preventing complications. New therapeutic approaches aim to restore GALT activity, influence the cascade of events, and address the clinical picture. Further research is needed to fully understand the precise pathophysiology of the disease.

JOURNAL OF PERSONALIZED MEDICINE (2021)

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Review Health Care Sciences & Services

Galactosemia: Towards Pharmacological Chaperones

Samantha Banford et al.

Summary: Galactosemia is a rare inherited metabolic disease caused by mutations in genes encoding enzymes involved in galactose metabolism. Current therapy is inadequate, with many patients suffering lifelong physical and cognitive disabilities. Proposed novel therapies often focus on treating symptoms rather than the underlying cause, with pharmacological chaperones representing a potential exciting therapy for restoring enzyme function in galactosemia. However, no pharmacological chaperones have yet been identified for potential application in galactosemia.

JOURNAL OF PERSONALIZED MEDICINE (2021)

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Article Biochemistry & Molecular Biology

Fragment Screening Reveals Starting Points for Rational Design of Galactokinase 1 Inhibitors to Treat Classic Galactosemia

Sabrina R. Mackinnon et al.

Summary: Research on inhibitors of galactokinase 1 (GALK1) suggests that targeting a newly identified nonorthosteric site may lead to the design of more potent and selective drugs, providing a new therapeutic approach for classic galactosemia.

ACS CHEMICAL BIOLOGY (2021)

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Article Genetics & Heredity

The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan

Atsuo Kikuchi et al.

Summary: The Leloir pathway metabolizes galactose and deficiencies in certain enzymes in this pathway are associated with genetic galactosemia. A new type of galactosemia, designated as type IV galactosemia, was recently discovered in patients with biallelic variants in the GALM gene upstream of GALK1. This relatively mild but not rare disease was identified through newborn screening in Japan.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2021)

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Article Genetics & Heredity

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

J. Gerard Loeber et al.

Summary: Neonatal screening in Europe has been evolving since the 1960s, with significant progress made between 2010 and 2020 in terms of methodological advancements and expansion of screened conditions. Collaboration within Europe is increasing, which is crucial for timely detection and intervention for newborns with rare diseases.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2021)

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Article Biotechnology & Applied Microbiology

Novel mRNA-Based Therapy Reduces Toxic Galactose Metabolites and Overcomes Galactose Sensitivity in a Mouse Model of Classic Galactosemia

Bijina Balakrishnan et al.

MOLECULAR THERAPY (2020)

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Review Biochemistry & Molecular Biology

Pharmacological Chaperones: A Therapeutic Approach for Diseases Caused by Destabilizing Missense Mutations

Ludovica Liguori et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)

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Review Endocrinology & Metabolism

Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models

Minela Haskovic et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2020)

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Article Pharmacology & Pharmacy

Therapies for galactosemia: a patent landscape

David J. Timson

PHARMACEUTICAL PATENT ANALYST (2020)

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Article Biochemistry & Molecular Biology

Discovery of novel inhibitors of human galactokinase by virtual screening

Xin Hu et al.

JOURNAL OF COMPUTER-AIDED MOLECULAR DESIGN (2019)

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Article Endocrinology & Metabolism

The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants

Shinya Iwasawa et al.

MOLECULAR GENETICS AND METABOLISM (2019)

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Article Clinical Neurology

Transcranial electrical stimulation improves phoneme processing in developmental dyslexia

Katharina S. Rufener et al.

BRAIN STIMULATION (2019)

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Article Genetics & Heredity

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

M. E. Rubio-Gozalbo et al.

ORPHANET JOURNAL OF RARE DISEASES (2019)

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Article Biotechnology & Applied Microbiology

A New Era for Rare Genetic Diseases: Messenger RNA Therapy

Paolo G. Martini et al.

HUMAN GENE THERAPY (2019)

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Article Genetics & Heredity

Biallelic GALM pathogenic variants cause a novel type of galactosemia

Yoichi Wada et al.

GENETICS IN MEDICINE (2019)

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Article Neuroimaging

Personalized transcranial alternating current stimulation (tACS) and physical therapy to treat motor and cognitive symptoms in Parkinson's disease: A randomized cross-over trial

Alessandra Del Felic et al.

NEUROIMAGE-CLINICAL (2019)

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Review Medicine, General & Internal

Screening for galactosemia: is there a place for it?

Magd A. Kotb et al.

INTERNATIONAL JOURNAL OF GENERAL MEDICINE (2019)

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Article Genetics & Heredity

Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG)

Marzia Pasquali et al.

GENETICS IN MEDICINE (2018)

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Article Genetics & Heredity

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

Linn Salto Mamsen et al.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2018)

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Article Biochemistry & Molecular Biology

Structural analysis of missense mutations in galactokinase 1 (GALK1) leading to galactosemia type-2

P. Sneha et al.

JOURNAL OF CELLULAR BIOCHEMISTRY (2018)

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Article Endocrinology & Metabolism

Intrafamilial oocyte donation in classic galactosemia: ethical and societal aspects

M. Haskovic et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2018)

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Article Endocrinology & Metabolism

Hereditary galactosemia

Didem Demirbas et al.

METABOLISM-CLINICAL AND EXPERIMENTAL (2018)

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Article Genetics & Heredity

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

Minela Haskovic et al.

ORPHANET JOURNAL OF RARE DISEASES (2018)

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Review Genetics & Heredity

Galactose-1-phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long-term complications and allelic variants

E. Viggiano et al.

CLINICAL GENETICS (2018)

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Article Endocrinology & Metabolism

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up

Lindsey Welling et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2017)

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Review Endocrinology & Metabolism

Sweet and sour: an update on classic galactosemia

Ana I. Coelho et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2017)

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Article Biochemistry & Molecular Biology

Reversal of aberrant PI3K/Akt signaling by Salubrinal in a GalT-deficient mouse model

B. Balakrishnan et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2017)

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Article Chemistry, Analytical

The selective detection of galactose based on boronic acid functionalized fluorescent carbon dots

Jingai Yang et al.

ANALYTICAL METHODS (2016)

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Article Biochemistry & Molecular Biology

Galactose-1 phosphate uridylyltransferase (GalT) gene: A novel positive regulator of the PI3K/Akt signaling pathway in mouse fibroblasts

Bijina Balakrishnan et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2016)

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Article Biochemistry & Molecular Biology

Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase

Thomas J. McCorvie et al.

HUMAN MOLECULAR GENETICS (2016)

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Article Genetics & Heredity

Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: Structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene

E. Viggiano et al.

GENE (2015)

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Review Endocrinology & Metabolism

A re-evaluation of life-long severe galactose restriction for the nutrition management of classic galactosemia

Sandra C. Van Calcar et al.

MOLECULAR GENETICS AND METABOLISM (2014)

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Article Biochemistry & Molecular Biology

Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia

Thomas J. McCorvie et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2013)

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Review Genetics & Heredity

Fertility preservation in female classic galactosemia patients

Britt van Erven et al.

ORPHANET JOURNAL OF RARE DISEASES (2013)

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Article Endocrinology & Metabolism

Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes

Patricia P. Jumbo-Lucioni et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2012)

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Article Biochemistry & Molecular Biology

Molecular and biochemical characterization of human galactokinase and its small molecule inhibitors

M. Tang et al.

CHEMICO-BIOLOGICAL INTERACTIONS (2010)

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Review Biochemistry & Molecular Biology

The Protein Family of Glucose Transport Facilitators: It's Not Only About Glucose After All

Robert Augustin

IUBMB LIFE (2010)

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Review Biochemistry & Molecular Biology

Galactose Toxicity in Animals

Kent Lai et al.

IUBMB LIFE (2009)

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Article Endocrinology & Metabolism

Analysis of UDP-galactose 4'-epimerase mutations associated with the intermediate form of type III galactosaemia

J. S. Chhay et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2008)

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Article Endocrinology & Metabolism

Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: Update on methods to reduce false tests

G. la Marca et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2008)

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Article Endocrinology & Metabolism

Duarte (DG) galactosemia: A pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening

Can Ficicioglu et al.

MOLECULAR GENETICS AND METABOLISM (2008)

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Article Obstetrics & Gynecology

Fertility and impact of pregnancies on the mother and child in classic galactosemia

Cynthia S. Gubbels et al.

OBSTETRICAL & GYNECOLOGICAL SURVEY (2008)

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Article Endocrinology & Metabolism

Involvement of endoplasmic reticulum stress in a novel Classic Galactosemia model

Tatiana I. Slepak et al.

MOLECULAR GENETICS AND METABOLISM (2007)

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Article Genetics & Heredity

Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase (GALT) gene

Bradford Coffee et al.

GENETICS IN MEDICINE (2006)

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Article Endocrinology & Metabolism

Short-term exogenous galactose supplementation does not influence rate of appearance of galactose in patients with classical galactosemia

HH Huidekoper et al.

MOLECULAR GENETICS AND METABOLISM (2005)

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Article Multidisciplinary Sciences

A selective inhibitor-of eIF2α dephosphorylation protects cells from ER stress

M Boyce et al.

SCIENCE (2005)

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Article Endocrinology & Metabolism

Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia

J Wasilenko et al.

MOLECULAR GENETICS AND METABOLISM (2005)

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Article Pediatrics

The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe

M Hunter et al.

PEDIATRIC RESEARCH (2002)

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Article Endocrinology & Metabolism

Plasma galactose and galactitol concentration in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia: Determination by gas chromatography /mass spectrometry

C Ning et al.

METABOLISM-CLINICAL AND EXPERIMENTAL (2000)

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Article Biochemistry & Molecular Biology

A mouse model of galactose-induced cataracts

YJ Ai et al.

HUMAN MOLECULAR GENETICS (2000)

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Review Endocrinology & Metabolism

Molecular basis of disorders of human galactose metabolism: Past, present, and future

G Novelli et al.

MOLECULAR GENETICS AND METABOLISM (2000)

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