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Galactose-1-phosphate accumulation by a Duarte-transferase deficiency double heterozygote
- Source :
- Clinical Genetics. 13:171-175
- Publication Year :
- 2008
- Publisher :
- Wiley, 2008.
-
Abstract
- An infant, suspected of having galactosemia following a positive screening test on dried blood spots, was shown to be a Duarte-transferase deficiency compound heterozygote through studies of electrophoretic mobility of the transferase enzyme in blood from the patient and family members. No rise in blood glucose was seen following oral ingestion of galactose. At the same time, galactose rose in plasma and was excreted in the urine; galactose-1-phosphate accumulated in erythrocytes. A galactose-free diet was considered the prudent course in the presence of the patient's inability to metabolize galactose completely.
- Subjects :
- Blood Glucose
Male
Heterozygote
medicine.medical_specialty
Erythrocytes
Urine
Biology
Compound heterozygosity
chemistry.chemical_compound
Transferases
Internal medicine
Genetics
medicine
Humans
Galactose—1-phosphate uridylyltransferase
Transferase
Hexosephosphates
Genetics (clinical)
chemistry.chemical_classification
Galactosephosphates
Galactosemia
Galactose
Infant
Transferase deficiency
Glucose Tolerance Test
medicine.disease
Endocrinology
Enzyme
chemistry
Carbohydrate Metabolism, Inborn Errors
Subjects
Details
- ISSN :
- 13990004 and 00099163
- Volume :
- 13
- Database :
- OpenAIRE
- Journal :
- Clinical Genetics
- Accession number :
- edsair.doi.dedup.....5ca19e8786877965a8a73c7ec6e92405