Partial N-acetyl glutamate synthase deficiency presenting as postpartum hyperammonemia: Diagnosis and subsequent pregnancy management

Keyphrases

• Subsequent Pregnancy 100%
• Pregnancy Management 100%
• Hyperammonemia 100%
• N-acetylglutamate Synthase Deficiency 100%
• Carglumic Acid 100%
• N-acetylglutamate 100%
• Urea Cycle Disorders 75%
• N-acetylglutamate Synthase 50%
• During Pregnancy 25%
• Acid Treatment 25%
• Healthy Women 25%
• Ammonia 25%
• Postpartum Period 25%
• Metabolic Stress 25%
• Pharmacological Treatment 25%
• Healthy Adults 25%
• Safe Use 25%
• Neurological Sequelae 25%
• Neurological Symptoms 25%
• Obtundation 25%
• Biochemical Abnormalities 25%
• Exome Sequencing 25%
• Third child 25%
• First child 25%
• Proximal Urea Cycle Disorders 25%
• Novel Variant 25%
• Synthase Genes 25%
• Carbamoyl Phosphate Synthetase 1 25%
• Plasma Metabolomics 25%
• Carbamoyl Phosphate 25%

Biochemistry, Genetics and Molecular Biology

• N-Acetylglutamate Synthase 100%
• Deficiency 100%
• Urea Cycle Disorder 80%
• Glutamic Acid 80%
• Exome Sequencing 20%
• Normal Human 20%
• Metabolomics 20%
• Puerperium 20%
• Carbamoyl Phosphate 20%
• Carbamoyl Phosphate Synthetase 20%
• Blood Plasma 20%
• Drug Therapy 20%

Medicine and Dentistry

• Hyperammonemia 100%
• Glutamate Synthase 100%
• N Acetylglutamic Acid 100%
• Urea Cycle Disorder 44%
• Carglumic Acid 44%
• Neurologic Disease 11%
• Drug Therapy 11%
• Exome Sequencing 11%
• Sequela 11%
• Puerperium 11%
• Metabolomics 11%
• Metabolic Stress 11%
• Carbamoyl Phosphate 11%
• Obtundation 11%
• Carbamoyl Phosphate Synthase 11%