+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Galactosemia in Norway

Galactosemia in Norway

Tidsskrift for den Norske Laegeforening 107(27): 2325-2328

From 1969 to 1986 galactosaemia was diagnosed in ten Norwegian infants (1:96000 live births). Galactosaemia is not included in the newborn screening programme in Norway, so all were diagnosed on clincial criteria, and were found to have galactose-1-phosphate uridyl transferase deficiency. The histories of the six patients born between June 1976 and June 1986 were examined retrospectively. Jaundice in the first week of life was the presenting sign in five of the patients, while the sixth presented with vomiting on the fourth day of life. Five of six patients had postnatal weight loss of 12-18%. In spite of classical symptomatology in all the patients, the diagnosis was made only after the second week of life in three. At the time of this study none of the children with a delayed diagnosis exhibited definite sequelae. The benefits of including galactosamia in our newborn screening programme would appear to be limited. However, diagnostic awareness needs to be increased in those who diagnose and treat newborns.

Please choose payment method:

(PDF emailed within 1 workday: $29.90)

Accession: 005500395

Download citation: RISBibTeXText

PMID: 3445241

Related references

Screening for galactosemia. Studies of the gene frequencies for galactosemia and the Duarte variant. Israel Journal of Medical Sciences 9(9): 1323-1329, 1973

Development of a new quantitative bacterial micro-assay for rapid detection of galactosemia application in galactosemia screening. Journal Of Applied Sciences: 17, 3026-3031, 2008

Significance of the Weidemann test in the diagnosis of galactosemia and in galactosemia screening. Kinderarztliche Praxis 49(5): 258-262, 1981

Alternate metabolic pathway in galactosemia. Observations in patient with galactosemia. American Journal of Diseases of Children 111(4): 400-405, 1966

Recent studies on galactosemia and fructosemia. Congenital monosaccharide intolerance (galactosemia-fructosemia). Minerva Pediatrica 20(52): 2739-2747, 1968

A point mutation in intron 8 of the GALT gene leading to exon redefinition in two siblings with mild galactosemia and a point mutation within exon 8 causing an amino acid substitution R272G in a patient with severe galactosemia. Journal of Inherited Metabolic Disease 20(Suppl. 1): 87, 1997

Floristic notes from some western scandinavian valleys flamsdalen sogn norway lodalen and oldedalen nordfjord norway and teveldalen aredalen trondelag jamtland norway a sweden. Blyttia 29(2): 95-97, 1971

Comparison between height development of Sitka spruce and Norway spruce in West Norway and North Norway. 1970

Galactosemia. Problemy Medycyny Wieku Rozwojowego 8: 70-76, 1979

Galactosemia. Metabolism 9(4): 316-325, 1960

Galactosemia. Indian Pediatrics. 28(7): 789-791, 1991

On Galactosemia. Orvosi Hetilap 105: 865-869, 1964

Galactosemia. Anales de Pediatria 75(1): 65-66, 2011

Galactosemia. Richards, B W (Edited By) Comptes Rendus Du Premier Congres De L Association Internationale Pour L Etude Scientifique De L Arrieration Mentale Proceedings Of The First Congress Of The International Association For The Scientific Study Of Mental Deficiency 982p Illus Maps Michael Jackson Publishing Co : Surrey, England 804-807, 1968