Galactose-1-phosphate uridyl transferase deficiency is not associated with Mullerian aplasia in Dutch patients.
until further notice
SourceJournal of Pediatric and Adolescent Gynecology, 22, 4, (2009), pp. 229-231
Article / Letter to editor
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Laboratory of Genetic, Endocrine and Metabolic Diseases
Paediatrics - OUD tm 2017
Journal of Pediatric and Adolescent Gynecology
SubjectDCN 2: Functional Neurogenomics; IGMD 3: Genomic disorders and inherited multi-system disorders; IGMD 4: Glycostation disorders; NCEBP 12: Human Reproduction; NCMLS 4: Energy and redox metabolism; NCEBP 12: Human Reproduction
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.
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