[Long-term results in children with classical galactosemia].

Abstract

Galactosemia due to uridyl-transferase deficiency was detected in 47 patients between 1/1/1967 and 31/12/1988. The condition took a fulminant course in 31 patients and 10 infants in this group died between the 6th and the 18th day of life. The determination of uridyl-transferase in 36 patients confirmed the diagnosis. Exchange blood transfusion was undertaken in 25 infants because of hyperbilirubinemia, septicemia or neurological symptoms. 5 of the 31 children had a cataract. In most cases the lactose-free diet was commenced in the 2nd week of life. 27 patients were followed up with respect to somatic and intellectual development. Gonadal function was investigated in 5 patients; hypergonadotropic hypogonadism was found in the 4 girls.

• Authors: S Scheibenreiter, E Knoll, K Widhalm
• Journal: Wiener klinische Wochenschrift (Wien Klin Wochenschr) Vol. 104 Issue 16 Pg. 514-7 ( 1992) ISSN: 0043-5325 [Print] Austria
• Vernacular Title: Langzeitergebnisse von Kindern mit klassischer Galaktosämie.
• PMID: 1413810 (Publication Type: English Abstract, Journal Article)

Chemical References

• Gonadal Steroid Hormones

Topics

• Adult
• Austria (epidemiology)
• Cross-Sectional Studies
• Female
• Follow-Up Studies
• Galactosemias (diagnosis, diet therapy, epidemiology)
• Gonadal Steroid Hormones (blood)
• Humans
• Incidence
• Infant, Newborn
• Intelligence (physiology)
• Male
• Neonatal Screening
• Reference Values