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

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
JournalJournal of Obstetrics and Gynaecology Canada
DOIs
Publication statusAccepted/In press - Jan 1 2018

Fingerprint

Breech Presentation
Pregnant Women
Acetyl-CoA C-Acetyltransferase
Ketone Bodies
Pregnancy
Isoleucine
Fasting
Emergencies
Chromosomes
Mutation
Genes
Beta ketothiolase deficiency

Keywords

  • acidosis
  • Alpha-methylacetoacetic aciduria
  • breech presentation
  • Caesarean section
  • mutation
  • pregnant woman

ASJC Scopus subject areas

  • Obstetrics and Gynaecology

Cite this

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title = "Alpha-Methylacetoacetic Aciduria in an Rh-Negative Pregnant Omani Woman With Breech Presentation Delivered With Favourable Outcome",
abstract = "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.",
keywords = "acidosis, Alpha-methylacetoacetic aciduria, breech presentation, Caesarean section, mutation, pregnant woman",
author = "Shahi Kiran and Fathiya AL-Murshedi and Jabri, {Sheikha Al} and Devi, {Meka Nirmala}",
year = "2018",
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language = "English",
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T1 - Alpha-Methylacetoacetic Aciduria in an Rh-Negative Pregnant Omani Woman With Breech Presentation Delivered With Favourable Outcome

AU - Kiran, Shahi

AU - AL-Murshedi, Fathiya

AU - Jabri, Sheikha Al

AU - Devi, Meka Nirmala

PY - 2018/1/1

Y1 - 2018/1/1

N2 - 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.

AB - 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.

KW - acidosis

KW - Alpha-methylacetoacetic aciduria

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KW - Caesarean section

KW - mutation

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