Peripartum management of two parturients with ornithine transcarbamylase deficiency

Ituk, Unyime; Constantinescu, Octav; Allen, Terrence K.; Small, Maria; Habib, Ashraf S.

doi:10.1016/j.ijoa.2011.09.007

Cited by 15 publications

(34 citation statements)

References 21 publications

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“…This is the series of enzymatic reactions by which the body converts toxic ammonia, formed from the breakdown of protein, into urea which is then safely excreted. It is an X-linked dominant disorder, with an estimated incidence of 1 in 14 000 live births 1. Therefore, men are usually more severely affected than women.…”

Section: Discussionmentioning

confidence: 99%

“…Therefore, men are usually more severely affected than women. Men often present with fatal hyperammonemia in the neonatal period whereas most women are either asymptomatic or have a later onset or less-severe presentation 1 2…”

Section: Discussionmentioning

confidence: 99%

“…Symptoms can be non-specific and include migraine-like headaches, recurrent vomiting, lethargy, hyperventilation, abnormal behaviour, disorientation or ataxia and anorexia especially to high-protein foods such as meat 1 2. Episodes of acute metabolic decompensation can occur which may lead to life-threatening encephalopathy caused by high levels of ammonia 7–9.…”

Section: Discussionmentioning

confidence: 99%

“…A pre-pregnancy counselling to plan management, review treatment and ensure optimal nutritional status is strongly recommended 3. A prenatal diagnosis should also be offered as the affected mother has a 50% chance of having an affected fetus 1 2. Anorexia and nausea in the first trimester may precipitate a hyperammonemic crisis and care must be taken to avoid dehydration 3.…”

Section: Discussionmentioning

confidence: 99%

“…Ornithine transcarbamylase (OTC) deficiency is a disorder of the urea cycle with an estimated incidence of 1 in 14 000 live births 1. Both improved medical care and newborn screening have led to an increasing number of patients with inherited metabolic diseases surviving into adulthood and therefore reaching a reproductive age.…”

Section: Introductionmentioning

confidence: 99%

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Multidisciplinary management of ornithine transcarbamylase (OTC) deficiency in pregnancy: essential to prevent hyperammonemic complications

et al. 2013

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SummaryOrnithine transcarbamylase (OTC) deficiency is the most common inborn error in the metabolism of the urea cycle with an incidence of 1 in 14 000 live births. Pregnancy can trigger potentially fatal hyperammonemic crises. We report a successful pregnancy in a 29-year-old primiparous patient with a known diagnosis of OTC deficiency since infancy. Hyperammonemic complications were avoided due to careful multidisciplinary management which included a detailed antenatal, intrapartum and postnatal plan. Management principles include avoidance of triggers, a low-protein diet and medications which promote the removal of nitrogen by alternative pathways. Triggers include metabolic stress such as febrile illness, particularly gastroenteritis, fasting and any protein loading. In our case the patient, in addition to a restricted protein intake, was prescribed sodium benzoate 4 g four times a day, sodium phenylbutyrate 2 g four times a day and arginine 500 mg four times a day to aid excretion of ammonia and reduce flux through the urea cycle. BACKGROUND

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Multidisciplinary management of ornithine transcarbamylase (OTC) deficiency in pregnancy: essential to prevent hyperammonemic complications

et al. 2013

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Maternal ornithine transcarbamylase deficiency, a genetic condition associated with high maternal and neonatal mortality every clinician should know: A systematic review

Torkzaban

Haddad

Baxter

et al. 2019

American J of Med Genetics Pt A

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Ornithine transcarbamylase deficiency (OTCD) is a rare X-linked urea cycle disorder.Maternal OTCD can lead to life-threatening hyperammonemia if untreated. We aimed to compare the outcomes of maternal OTCD when diagnosis is known prior to pregnancy to when diagnosis is made during pregnancy. We performed a systematic literature review on maternal OTCD using the databases Ovid MEDLINE and PubMed from 1982 through 2018. Studies were included if addressed maternal OTCD signs, symptoms, and detailed pregnancy outcomes. We calculated the median or the mean for continuous variables and percentages for categorical variables. Of 36 cases of maternal OTCD, 20 (55%) were diagnosed prior to pregnancy while 16 (45%) were not. In the 20 patients diagnosed prior to pregnancy, 7 (35%) had either a neurologic or psychiatric presentation during pregnancy or postpartum. Two hyperammonemic patients (11%) experienced ICU admission, dialysis, and coma with no maternal deaths. All had a favorable outcome. In the 16 patients not known to have maternal OTCD prior to pregnancy, 13 (81%) had neurologic or psychiatric presentation during pregnancy or postpartum. Four presented with hyperemesis gravidarum. Eleven (69%) hyperammonemic patients had ICU admission and coma and 7 (47%) of them had dialysis. There were 5 (31%) maternal deaths. Three patients (19%) had prolonged hospitalization course. Overall, three male neonatal deaths were reported. Three other male children had liver transplant. Maternal OTCD is associated with high maternal and neonatal morbidity and mortality when diagnosis is made during pregnancy compared to when diagnosis is known prior to pregnancy.

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Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

Häberle

Burlina²,

Chakrapani

et al. 2019

J of Inher Metab Disea

318

478

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In 2012, we published guidelines summarizing and evaluating late 2011 evidence for diagnosis and therapy of urea cycle disorders (UCDs). With 1:35 000 estimated incidence, UCDs cause hyperammonemia of neonatal (~50%) or late onset that can lead to intellectual disability or death, even while effective therapies do exist. In the 7 years increased awareness among health professionals and patient families. However, underrecognition and delayed diagnosis of UCDs still appear widespread. It was therefore necessary to revise the original guidelines to ensure an up-to-date frame of reference for professionals and patients as well as for awareness campaigns. This was accomplished by keeping the original spirit of providing a trans-European consensus based on robust evidence (scored with GRADE methodology), involving professionals on UCDs from nine countries in preparing this consensus. We believe this revised guideline, which has been reviewed by several societies that are involved in the management of UCDs, will have a positive impact on the outcomes of patients by establishing common standards, and spreading and harmonizing good practices. It may also promote the identification of knowledge voids to be filled by future research.

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Peripartum management of two parturients with ornithine transcarbamylase deficiency

Cited by 15 publications

References 21 publications

Multidisciplinary management of ornithine transcarbamylase (OTC) deficiency in pregnancy: essential to prevent hyperammonemic complications

Multidisciplinary management of ornithine transcarbamylase (OTC) deficiency in pregnancy: essential to prevent hyperammonemic complications

Maternal ornithine transcarbamylase deficiency, a genetic condition associated with high maternal and neonatal mortality every clinician should know: A systematic review

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

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