Untreated classical galactosemia patient with mild phenotype

Molecular Genetics and Metabolism
Bianca PanisM Estela Rubio-Gozalbo

Abstract

Despite life-long galactose restriction, long-term complications generally occur in classical galactosemia. We report an adult male with classical galactosemia (Q188R homozygosity, severely reduced erythrocyte galactose-1-phosphate uridyltransferase activity) who has a surprisingly mild phenotype despite genotype and enzyme activity associated with severe phenotype. Moreover he has a normal galactose intake from the age of 3 years. This case is probably an example of the important role of yet unknown susceptibility and or modifier genes.

References

Jan 1, 1990·Journal of Inherited Metabolic Disease·D D WaggonerG N Donnell
May 1, 1989·Neurology·J H FriedmanR M Boustany
Jan 1, 1983·The Journal of Pediatrics·S E WaisbrenH L Levy
Jan 1, 1993·European Journal of Pediatrics·S SchweitzerJ Brodehl
May 1, 1997·Journal of Pediatric Gastroenterology and Nutrition·L T BekerJ A Sadowski
Apr 22, 2003·Annual Review of Nutrition·Nancy D Leslie
Aug 21, 2003·Lancet·Philip J LeePeter Schadewaldt
Jun 3, 2004·Molecular Genetics and Metabolism·Gerard T BerryStanton Segal
Sep 30, 2004·Bone·B PanisM E Rubio-Gozalbo
Aug 10, 2005·Pediatric Neurology·Keith R RidelDonald L Gilbert

❮ Previous
Next ❯

Citations

May 7, 2009·Journal of Inherited Metabolic Disease·J S CameloS Moysés Jorge
Jul 14, 2010·Journal of Inherited Metabolic Disease·Annet M Bosch
Feb 26, 2011·Journal of Inherited Metabolic Disease·Cynthia Sophia GubbelsMartha Alexandra Grootenhuis
Mar 28, 2012·Journal of Inherited Metabolic Disease·Patricia P Jumbo-LucioniJudith L Fridovich-Keil
Aug 9, 2012·Journal of Inherited Metabolic Disease·K P CossE P Treacy
Oct 12, 2012·Journal of Inherited Metabolic Disease·Cynthia S GubbelsGerard T Berry
Oct 2, 2009·Human Reproduction Update·M E Rubio-GozalboJ A Land
Sep 2, 2014·Molecular Genetics and Metabolism·K P CossP P Doran
Jun 25, 2008·Annals of the New York Academy of Sciences·Gerard T Berry
Aug 18, 2006·Molecular Genetics and Metabolism·Stanton Segal
Apr 16, 2015·Molecular Genetics and Metabolism·S AdamH Zweers
Jun 4, 2010·Disease Models & Mechanisms·Rebekah F KushnerJudith L Fridovich-Keil

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

© 2022 Meta ULC. All rights reserved