Alpha-Methylacetoacetic Aciduria in an Rh-Negative Pregnant Omani Woman With Breech Presentation Delivered With Favourable Outcome

Shahi Kiran*, Fathiya AL-Murshedi, Sheikha Al Jabri, Meka Nirmala Devi

*المؤلف المقابل لهذا العمل

نتاج البحث: المساهمة في مجلةمراجعة النظراء

1 اقتباس (Scopus)

ملخص

Background: Alpha-methylacetoacetic aciduria, an autosomal recessive disorder of isoleucine and ketone body metabolism, is caused by a mutation in the acetyl coenzyme A acetyltransferase-1 gene (ACAT1; 607809) on chromosome 11q22. Ketoacidotic episodes in such patients are triggered by stress situations with increased energy demands. Pregnancy, surgical procedures, and prolonged fasting are potential triggers for metabolic crisis in such cases. Case: A young Rh-negative Omani woman with alpha-methylacetoacetic aciduria is described here during her second pregnancy. Her metabolic condition was detected at the age of 18 months. She was successfully delivered of a clinically healthy baby through emergency CS for breech presentation. Conclusion: Prompt management by a multidisciplinary team is vital to avoid metabolic crisis and to promote a favourable outcome in these cases.

اللغة الأصليةEnglish
دوريةJournal of Obstetrics and Gynaecology Canada
المعرِّفات الرقمية للأشياء
حالة النشرAccepted/In press - يناير 1 2018

ASJC Scopus subject areas

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بصمة

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