scholarly journals Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review

2016 ◽  
pp. 33-42 ◽  
Author(s):  
Ashwini Maratha ◽  
Hugh-Owen Colhoun ◽  
Ina Knerr ◽  
Karen P. Coss ◽  
Peter Doran ◽  
...  
Keyword(s):  
Classical Galactosaemia

scholarly journals IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia

2015 ◽  
pp. 47-53 ◽  
Author(s):  
Henning Stockmann ◽  
Karen P. Coss ◽  
M. Estela Rubio-Gozalbo ◽  
Ina Knerr ◽  
Maria Fitzgibbon ◽  
...  
Keyword(s):  
Classical Galactosaemia

scholarly journals Insights into the Pathophysiology of Infertility in Females with Classical Galactosaemia

2019 ◽  
Vol 20 (20) ◽  
pp. 5236 ◽  
Author(s):  
Zaza Abidin ◽  
Eileen P. Treacy
Keyword(s):  
Inborn Error ◽  
Primary Ovarian Insufficiency ◽  
Future Prospects ◽  
Ovarian Dysfunction ◽  
Galactose Metabolism ◽  
Ovarian Insufficiency ◽  
New Horizons ◽  
Classical Galactosaemia ◽  
Rare Inborn Error

Classical galactosaemia (CG) (OMIM 230400) is a rare inborn error of galactose metabolism caused by the deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT, EC 2.7.7.12). Primary ovarian insufficiency (POI) is the most common long-term complication experienced by females with CG, presenting with hypergonadotrophic hypoestrogenic infertility affecting at least 80% of females despite new-born screening and lifelong galactose dietary restriction. In this review, we describe the hypothesized pathophysiology of POI from CG, implications of timing of the ovarian dysfunction, and the new horizons and future prospects for treatments and fertility preservation.

scholarly journals Neonatal classical galactosaemia presenting as citrin deficiency

2008 ◽  
Vol 49 (3) ◽  
pp. 463 ◽  
Author(s):  
Patrick J. McKiernan ◽  
Ulrich Baumann
Keyword(s):  
Classical Galactosaemia ◽  
Citrin Deficiency

An update on the molecular analysis of classical galactosaemia patients diagnosed in Spain and Portugal: 7 new mutations in 17 new families

2009 ◽  
Vol 132 (18) ◽  
pp. 709-711 ◽  
Author(s):  
Laura Gort ◽  
Ester Quintana ◽  
Sonia Moliner ◽  
Lidia González-Quereda ◽  
Tania López-Hernández ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Classical Galactosaemia ◽  
New Mutations

Classical galactosaemia in Chinese: A case report and review of disease incidence

1999 ◽  
Vol 35 (4) ◽  
pp. 399-400 ◽  
Author(s):  
KL Cheung ◽  
NLS Tang ◽  
KJ Hsiao ◽  
LK Law ◽  
W Wong ◽  
...  
Keyword(s):  
Case Report ◽  
Disease Incidence ◽  
Classical Galactosaemia

Galactosaemia

1987 ◽  
Vol 5 (3-4) ◽  
pp. 175-188 ◽  
Author(s):  
L B. Sardharwalla ◽  
J. E. Wraith
Keyword(s):  
High Risk ◽  
Early Diagnosis ◽  
Mental Development ◽  
Diagnosis And Treatment ◽  
Early Age ◽  
Biochemical Genetics ◽  
Classical Galactosaemia ◽  
Eventual Outcome ◽  
Very High

This paper reviews galactosaemia and describes the experience of the Willink Biochemical Genetics Unit in the management of classical galactosaemia. Galactokinase and UDPgalactose-4-epimerase deficiency are dealt with briefly. The former disorder is readily treated with a galactose free diet and if this is started early in life, the only complication, cataracts, is avoided. Epimerase deficiency is a relatively ‘new’ disorder and little is known about the eventual outcome of affected patients. Early observations suggest that the prognosis is likely to be poor even in those patients diagnosed and treated soon after birth. Classical galactosaemia leads to a number of long term complications. The prognosis for normal mental development in affected patients is poor. Unfortunately this does not appear to be reversible by early diagnosis and treatment and whilst every effort should be made to establish an early diagnosis our experience suggests that there is no difference in the ultimate mental development between those who are detected within the first two weeks of life and those before the age of six weeks. In addition female homozygotes are at a very high risk of developing ovarian failure at an early age.

Cataracts in children with classical galactosaemia and in their parents

1988 ◽  
Vol 11 (S2) ◽  
pp. 246-248 ◽  
Author(s):  
J. P. Burke ◽  
M. O'Keefe ◽  
R. Bowell ◽  
E. R. Naughten
Keyword(s):  
Classical Galactosaemia
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