Sweet and Sour: an Update on Classic Galactosemia

Overview

Journal J Inherit Metab Dis

Publisher Wiley

Date 2017 Mar 11

PMID 28281081

Citations 43

Authors

Ana I Coelho

M Estela Rubio-Gozalbo

Joao B Vicente

Isabel Rivera

Affiliations

Soon will be listed here.

Abstract

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 life-threatening disease, whose clinical picture can be resolved by a galactose-restricted diet. The dietary treatment proves, however, insufficient in preventing severe long-term complications, such as cognitive, social and reproductive impairments. Classic galactosemia represents a heavy burden on patients' and their families' lives. After its first description in 1908 and despite intense research in the past century, the exact pathogenic mechanisms underlying galactosemia are still not fully understood. Recently, new important insights on molecular and cellular aspects of galactosemia have been gained, and should open new avenues for the development of novel therapeutic strategies. Moreover, an international galactosemia network has been established, which shall act as a platform for expertise and research in galactosemia. Herein are reviewed some of the latest developments in clinical practice and research findings on classic galactosemia, an enigmatic disorder with many unanswered questions warranting dedicated research.

Citing Articles

Unusual Presentation of Classical Galactosemia: A Case Report of Iranian Experience.

Alaee M, Saneifard H, Shakiba M, Hanifeh M, Moarefian S Clin Case Rep. 2025; 13(2):e70170.

PMID: 39973892 PMC: 11835960. DOI: 10.1002/ccr3.70170.

Untreated Classic Galactosemia: A Rare Cause of Adult-Onset Progressive Cerebellar Ataxia - A Case Report.

Karafyllis I, Nuoffer J, Michelis J, Chilver-Stainer L Case Rep Neurol. 2024; 16(1):55-62.

PMID: 38444718 PMC: 10914380. DOI: 10.1159/000536679.

Understanding the patient experience of Classic Galactosemia in pediatric and adult patients: increased disease burden, challenges with daily living, and how they evolve over time.

Randall J, Sutter C, Raither L, Wang S, Bailey E, Perfetti R J Patient Rep Outcomes. 2023; 7(1):95.

PMID: 37751006 PMC: 10522554. DOI: 10.1186/s41687-023-00635-2.

Endocrine Disorders in a Newborn with Heterozygous Galactosemia, Down Syndrome and Complex Cardiac Malformation: Case Report.

Rosca I, Turenschi A, Nicolescu A, Constantin A, Canciu A, Dica A Medicina (Kaunas). 2023; 59(5).

PMID: 37241085 PMC: 10220887. DOI: 10.3390/medicina59050856.

Congenital cataract: a guide to genetic and clinical management.

Bell S, Oluonye N, Harding P, Moosajee M Ther Adv Rare Dis. 2023; 1:2633004020938061.

PMID: 37180497 PMC: 10032449. DOI: 10.1177/2633004020938061.

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