Galactose-1-phosphate uridyl transferase deficiency is not associated with Mullerian aplasia in Dutch patients
| Autor: | Ronald J.A. Wanders, Wim N.P. Willemsen, Ron A. Wevers, Francis E. Hartog, Roel Nijland |
|---|---|
| Přispěvatelé: | Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases |
| Rok vydání: | 2009 |
| Předmět: |
Adult
medicine.medical_specialty Energy and redox metabolism [NCMLS 4] Population Urine Polymorphism Single Nucleotide Genomic disorders and inherited multi-system disorders [IGMD 3] Young Adult Polymorphism (computer science) Pregnancy Internal medicine medicine Outpatient clinic Humans UTP-Hexose-1-Phosphate Uridylyltransferase Family history Young adult education Mullerian Ducts Netherlands Gynecology education.field_of_study business.industry Case-control study Obstetrics and Gynecology Galactose General Medicine Syndrome Glycostation disorders [IGMD 4] Middle Aged medicine.disease Human Reproduction [NCEBP 12] Endocrinology Case-Control Studies Pediatrics Perinatology and Child Health Female business Functional Neurogenomics [DCN 2] |
| Zdroj: | Journal of Pediatric and Adolescent Gynecology, 22, 229-31 Journal of pediatric and adolescent gynecology, 22(4), 229-231. Elsevier USA Journal of Pediatric and Adolescent Gynecology, 22, 4, pp. 229-31 |
| ISSN: | 1083-3188 |
| Popis: | Contains fulltext : 80664.pdf (Publisher’s version ) (Closed access) STUDY OBJECTIVE: To study whether a deficiency in galactose-1-phosphate uridyl transferase (GALT) activity of mothers was an explanation for the occurrence of Mullerian aplasia of their daughters. DESIGN: A case control study. SETTING: The patients were selected from the outpatient clinic of the University Medical Center Nijmegen, and compared with the general population in The Netherlands. PARTICIPANTS: Patients (n=9) diagnosed with the syndrome of Mullerian aplasia and their mothers were included. INTERVENTIONS: A questionnaire for medical and family history was taken, and a venous blood sample and urine were collected. MAIN OUTCOME MEASURES: GALT activity (in blood), galactose and galactilol (in urine) were measured. Measured values were analyzed by Student's paired t-test. RESULTS: All patients and their mothers had normal GALT activities> or =20 micromol/h/g Hb. The mean value did not differ from the mean of the normal Dutch population, which was 31.6 (SD=5.0) mumol/h/g Hb. CONCLUSION: GALT deficiency is not an explanation for Mullerian aplasia, at least in the Dutch population. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect