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galactosemia
Pathology:
- cataracts are secondary to accumulation of galactitol in the lenses
Genetics:
1) galactose-1-phosphate uridyltransferase deficiency
a) nearly all cases
b) fatty cirrhotic liver
2) galactokinase (GALK1) deficiency (uncommon) {type 2}
3) UDP-glucose-4-epimerase deficiency (rare)
Clinical manifestations:
1) galactose-1-phosphate uridyltransferase deficiency
a) nausea/vomiting & diarrhea following ingestion of milk
b) onset of symptoms after a few days to weeks of life
c) mental retardation
d) failure to thrive
e) jaundice
f) juvenile cataracts
2) galactokinase (GALK1) deficiency:
a) cataracts is the only manifestation
b) congenital cataracts during infancy
c) presenile cataracts in the adult population
3) UDP-glucose-4-epimerase deficiency
- relatively asymptomatic
Laboratory:
1) decreased erythrocyte galactose-1-phosphate uridyltransferase (GALT) activity - screening programs for galactosemia based upon assay for GALT
2) urine chemistries
a) galactosuria
b) aminoaciduria
c) albuminuria
3) GALT gene mutation
4) see ARUP consult [2]
Related
galactose-1-phosphate uridyltransferase in blood
GALT gene allele 1 in blood
GALT gene allele 2 in blood
Specific
galactosemia 2 (galactokinase deficiency)
galactosemia 3 (epimerase-deficiency galactosemia)
General
carbohydrate inborn error of metabolism
Database Correlations
OMIM correlations
References
- OMIM :accession 230200
- ARUP Consult: Classic Galactosemia
The Physician's Guide to Laboratory Test Selection & Interpretation
https://www.arupconsult.com/content/classic-galactosemia