- Foreword
- Contributors
- 1 General Approach to Pregnancy Care in the Neurologic Patient
- 2 Pregnancy Safety and Termination
- 3 Contraception Options in Neurologic Disease
- 4 Pregnancy Physiology
- 5 Fetal Imaging for the Neurologist
- 6 Prenatal Genetics for Women with Neurology Disease
- 7 Radiation Exposure and Neuroimaging During Pregnancy
- 8 Cognitive Changes in Pregnancy
- 9 Principles of Reproductive Healthcare in Chronic Neurologic Disease
- 10 Immune-mediated Disorders of the Central Nervous System
- 11 Neurologic Infections in Pregnancy
- 12 Headache
- 13 Traumatic Brain Injury and Pregnancy
- 14 Ischemic Stroke Management in Pregnancy
- 15 Hemorrhagic Stroke Management in Pregnancy
- 16 Management of Intracranial Vascular Lesions During Pregnancy
- 17 Cerebral Venous Thrombosis
- 18 Brain Tumors in Pregnancy
- 19 Movement Disorders in Pregnancy
- 20 Pregnancy and Epilepsy
- 21 Seizure Medications Effects on Fetus, Neonate, and Lactation
- 22 Postpartum Care for Women with Epilepsy
- 23 Sleep Disorders and Pregnancy
- 24 Neuromuscular Diseases
- 25 Charcot-Marie-Tooth Disease and Pregnancy
- 26 Guillain-Barré Syndrome and Chronic Inflammatory Demyelinating Polyradiculoneuropathy in Pregnancy
- 27 Entrapment Neuropathy and Pregnancy
- 28 Neurocutaneous Disorders in Pregnancy
- 29 Spinal Cord Injury in Pregnancy
- 30 Inherited Metabolic Diseases (IMDs) and Pregnancy
- 31 Approach to Delivery in the Patient with Neurologic Disease
- 32 Anesthetic Considerations for Neurologic Patients
- 33 Neurologic Complications in Obstetric Anesthesia
- 34 Perinatal Depression in Neurological Disease and Disability
- 35 Breastfeeding in the Context of Neurological Disorders
- Index
(p. 292) Inherited Metabolic Diseases (IMDs) and Pregnancy
- Chapter:
- (p. 292) Inherited Metabolic Diseases (IMDs) and Pregnancy
- Author(s):
Ahmed I. Ahmed
, Sarah Aldhaheri
, and Allison Bannick
- DOI:
- 10.1093/med/9780190667351.003.0030
Inherited metabolic diseases (IMDs) are rare genetic disorders: clinically heterogeneous, and they can present at any age. With the expanded newborn screening panels, many of the IMDs have been successfully screened. Early diagnosis and treatment of these conditions have led to improved neurological outcomes and overall survival of these individuals, and now many of them are reaching childbearing age. Despite treatment, the potential presence of preexisting organ involvement may not only impact their fertility potentials but also may impose a higher risk of adverse maternal and fetal outcomes. Pregnancy leads to an extra strain on maternal metabolism; this may result in the manifestation of symptoms of a previously unknown disease or a progression of a known disease. This chapter will address the possible complications of some inherited disorders of metabolism that are associated with maternal or fetal neurological manifestations such as disorders of energy metabolism (eg, mitochondrial disorders, adult onset urea cycle disorders, ornithine transcarbamylase (OTC) deficiency, amino acidopathies, phenylketonuria (PKU), and impaired fatty acid oxidation disorders). We will provide special emphasis on the available potential treatments and plan of care during pregnancy and postpartum periods.
Access to the complete content on Oxford Medicine Online requires a subscription or purchase. Public users are able to search the site and view the abstracts for each book and chapter without a subscription.
Please subscribe or login to access full text content.
If you have purchased a print title that contains an access token, please see the token for information about how to register your code.
For questions on access or troubleshooting, please check our FAQs, and if you can't find the answer there, please contact us.
- Foreword
- Contributors
- 1 General Approach to Pregnancy Care in the Neurologic Patient
- 2 Pregnancy Safety and Termination
- 3 Contraception Options in Neurologic Disease
- 4 Pregnancy Physiology
- 5 Fetal Imaging for the Neurologist
- 6 Prenatal Genetics for Women with Neurology Disease
- 7 Radiation Exposure and Neuroimaging During Pregnancy
- 8 Cognitive Changes in Pregnancy
- 9 Principles of Reproductive Healthcare in Chronic Neurologic Disease
- 10 Immune-mediated Disorders of the Central Nervous System
- 11 Neurologic Infections in Pregnancy
- 12 Headache
- 13 Traumatic Brain Injury and Pregnancy
- 14 Ischemic Stroke Management in Pregnancy
- 15 Hemorrhagic Stroke Management in Pregnancy
- 16 Management of Intracranial Vascular Lesions During Pregnancy
- 17 Cerebral Venous Thrombosis
- 18 Brain Tumors in Pregnancy
- 19 Movement Disorders in Pregnancy
- 20 Pregnancy and Epilepsy
- 21 Seizure Medications Effects on Fetus, Neonate, and Lactation
- 22 Postpartum Care for Women with Epilepsy
- 23 Sleep Disorders and Pregnancy
- 24 Neuromuscular Diseases
- 25 Charcot-Marie-Tooth Disease and Pregnancy
- 26 Guillain-Barré Syndrome and Chronic Inflammatory Demyelinating Polyradiculoneuropathy in Pregnancy
- 27 Entrapment Neuropathy and Pregnancy
- 28 Neurocutaneous Disorders in Pregnancy
- 29 Spinal Cord Injury in Pregnancy
- 30 Inherited Metabolic Diseases (IMDs) and Pregnancy
- 31 Approach to Delivery in the Patient with Neurologic Disease
- 32 Anesthetic Considerations for Neurologic Patients
- 33 Neurologic Complications in Obstetric Anesthesia
- 34 Perinatal Depression in Neurological Disease and Disability
- 35 Breastfeeding in the Context of Neurological Disorders
- Index