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Galactose-1-phosphate uridyl transferase deficiency due to Duarte/galactosemia combined variation: clinical and biochemical studies.
J Pediatr. 1978 Mar; 92(3):390-3.JPed

Abstract

The most common abnormality detected by the screening of newborn infants for galactosemia is a deficiency of galactose-1-phosphate uridyl transferase due to the presence in one individual of allelic genes for the Duarte variant and for galactosemia. Clinical studies of ten untreated individuals with this genetic compound, including three adults, failed to reveal evidence of cataracts, liver disease, or mental subnormality, the major clinical complications associated with galactosemia. Galactose-1-phosphate was not detectable in umbilical cord blood from one infant. Galactose was not detectable in random blood specimens from any of the individuals and was present in only small amounts following ingestion of milk in one infant and a child. It would appear that this common gentic variation is usually, if not always, benign.

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Publisher Full Text

Authors

Levy HL
No affiliation info available
Sepe SJ
No affiliation info available
Walton DS
No affiliation info available
Shih VE
No affiliation info available
Hammersen G
No affiliation info available
Houghton S
No affiliation info available
Beutler E
No affiliation info available

MeSH

AdultClinical Enzyme TestsErythrocytesFemaleGalactosemiasGenotypeHumansInfant, NewbornMaleNucleotidyltransferasesUTP-Hexose-1-Phosphate Uridylyltransferase

Pub Type(s)

Journal Article
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

632977

Citation

Levy, H L., et al. "Galactose-1-phosphate Uridyl Transferase Deficiency Due to Duarte/galactosemia Combined Variation: Clinical and Biochemical Studies." The Journal of Pediatrics, vol. 92, no. 3, 1978, pp. 390-3.
Levy HL, Sepe SJ, Walton DS, et al. Galactose-1-phosphate uridyl transferase deficiency due to Duarte/galactosemia combined variation: clinical and biochemical studies. J Pediatr. 1978;92(3):390-3.
Levy, H. L., Sepe, S. J., Walton, D. S., Shih, V. E., Hammersen, G., Houghton, S., & Beutler, E. (1978). Galactose-1-phosphate uridyl transferase deficiency due to Duarte/galactosemia combined variation: clinical and biochemical studies. The Journal of Pediatrics, 92(3), 390-3.
Levy HL, et al. Galactose-1-phosphate Uridyl Transferase Deficiency Due to Duarte/galactosemia Combined Variation: Clinical and Biochemical Studies. J Pediatr. 1978;92(3):390-3. PubMed PMID: 632977.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Galactose-1-phosphate uridyl transferase deficiency due to Duarte/galactosemia combined variation: clinical and biochemical studies. AU - Levy,H L, AU - Sepe,S J, AU - Walton,D S, AU - Shih,V E, AU - Hammersen,G, AU - Houghton,S, AU - Beutler,E, PY - 1978/3/1/pubmed PY - 1978/3/1/medline PY - 1978/3/1/entrez SP - 390 EP - 3 JF - The Journal of pediatrics JO - J Pediatr VL - 92 IS - 3 N2 - The most common abnormality detected by the screening of newborn infants for galactosemia is a deficiency of galactose-1-phosphate uridyl transferase due to the presence in one individual of allelic genes for the Duarte variant and for galactosemia. Clinical studies of ten untreated individuals with this genetic compound, including three adults, failed to reveal evidence of cataracts, liver disease, or mental subnormality, the major clinical complications associated with galactosemia. Galactose-1-phosphate was not detectable in umbilical cord blood from one infant. Galactose was not detectable in random blood specimens from any of the individuals and was present in only small amounts following ingestion of milk in one infant and a child. It would appear that this common gentic variation is usually, if not always, benign. SN - 0022-3476 UR - https://www.unboundmedicine.com/medline/citation/632977/Galactose_1_phosphate_uridyl_transferase_deficiency_due_to_Duarte/galactosemia_combined_variation:_clinical_and_biochemical_studies_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0022-3476(78)80425-9 DB - PRIME DP - Unbound Medicine ER -