[Long-term results in children with classical galactosemia].
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.
Scheibenreiter
S
S
Universitäts-Kinderklinik, Wien.
Knoll
E
E
Widhalm
K
K
D000328:Adult; D001317:Austria / Q000453:epidemiology; D003430:Cross-Sectional Studies; D005260:Female; D005500:Follow-Up Studies; D005693:Galactosemias / Q000175:diagnosis* / Q000178:diet therapy / Q000453:epidemiology; D012739:Gonadal Steroid Hormones / Q000097:blood; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D007360:Intelligence / Q000502:physiology; D008297:Male; D015997:Neonatal Screening; D012016:Reference Values
D012739:Gonadal Steroid Hormones
Langzeitergebnisse von Kindern mit klassischer Galaktosämie.