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[Clinical and biochemical diagnosis of galactosemia among our cases].
Probl Med Wieku Rozwoj. 1979; 8:63-9.PM

Abstract

Clinical and biochemical diagnostic studies concerned 17 cases of galactosemia coming from 15 not consauguineous families. Galactosemia was diagnosed between 1-st day and 11-th month of life. Tentative diagnosis based on clinical picture was made in 12 infants, others were detected through family history of galactosemia and/or biochemical newborn screening carried out at the National Research Institute of Mother and Child since 1969. Clinical symptoms of galactosemia occurred in most patients in the first week of life. They were the following (tab. II): hepatomegaly (in 94%), jaundice (81%), splenomegaly (79%), vomitus (62%) and diarrhoea in 56% of patients. Cataract was found in 6 infants (38%). Biochemical diagnosis was based on the results of enzymatic estimation of galactose-1-phosphate uridyl transferase activity in blood, galactose-1-phosphate in red blood cells and galactose in blood and urine. No activity of galactose-1-phosphate uridyl transferase was found in all patients, and the concentration of galactose-1-phosphate was higher than 25 mg/100 ml of red blood cells. High galactose level was observed in blood and urine in all patients with typical clinical course of galactosemia. In 2 patients however without clinical symptoms of the disease only trace amounts of galactose was detected in blood and urine. All these patients were treated with galactose free diet.

Authors

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Pub Type(s)

English Abstract
Journal Article

Language

pol

PubMed ID

263527

Citation

Bozkowa, K, et al. "[Clinical and Biochemical Diagnosis of Galactosemia Among Our Cases]." Problemy Medycyny Wieku Rozwojowego, vol. 8, 1979, pp. 63-9.
Bozkowa K, Zbieg-Sendecka E, Grodzka Z, et al. [Clinical and biochemical diagnosis of galactosemia among our cases]. Probl Med Wieku Rozwoj. 1979;8:63-9.
Bozkowa, K., Zbieg-Sendecka, E., Grodzka, Z., & Cabalska, B. (1979). [Clinical and biochemical diagnosis of galactosemia among our cases]. Problemy Medycyny Wieku Rozwojowego, 8, 63-9.
Bozkowa K, et al. [Clinical and Biochemical Diagnosis of Galactosemia Among Our Cases]. Probl Med Wieku Rozwoj. 1979;8:63-9. PubMed PMID: 263527.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Clinical and biochemical diagnosis of galactosemia among our cases]. AU - Bozkowa,K, AU - Zbieg-Sendecka,E, AU - Grodzka,Z, AU - Cabalska,B, PY - 1979/1/1/pubmed PY - 1979/1/1/medline PY - 1979/1/1/entrez SP - 63 EP - 9 JF - Problemy medycyny wieku rozwojowego JO - Probl Med Wieku Rozwoj VL - 8 N2 - Clinical and biochemical diagnostic studies concerned 17 cases of galactosemia coming from 15 not consauguineous families. Galactosemia was diagnosed between 1-st day and 11-th month of life. Tentative diagnosis based on clinical picture was made in 12 infants, others were detected through family history of galactosemia and/or biochemical newborn screening carried out at the National Research Institute of Mother and Child since 1969. Clinical symptoms of galactosemia occurred in most patients in the first week of life. They were the following (tab. II): hepatomegaly (in 94%), jaundice (81%), splenomegaly (79%), vomitus (62%) and diarrhoea in 56% of patients. Cataract was found in 6 infants (38%). Biochemical diagnosis was based on the results of enzymatic estimation of galactose-1-phosphate uridyl transferase activity in blood, galactose-1-phosphate in red blood cells and galactose in blood and urine. No activity of galactose-1-phosphate uridyl transferase was found in all patients, and the concentration of galactose-1-phosphate was higher than 25 mg/100 ml of red blood cells. High galactose level was observed in blood and urine in all patients with typical clinical course of galactosemia. In 2 patients however without clinical symptoms of the disease only trace amounts of galactose was detected in blood and urine. All these patients were treated with galactose free diet. SN - 0303-2264 UR - https://www.unboundmedicine.com/medline/citation/263527/[Clinical_and_biochemical_diagnosis_of_galactosemia_among_our_cases]_ L2 - http://www.diseaseinfosearch.org/result/2973 DB - PRIME DP - Unbound Medicine ER -