Acute postpartum mental status change and coma caused by previously undiagnosed ornithine transcarbamylase deficiency

Peterson, Dirk E.

doi:10.1016/s0029-7844(03)00165-0

Cited by 29 publications

(19 citation statements)

References 9 publications

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“…7 Pregnancy is thought to confer protection against hyperammonemia due to increased nitrogen utilization by the uterus, placenta and fetus, and detoxification of maternal nitrogen by the fetus. 1,3 Multiple factors, including infection, steroids and haloperidol, may have contributed to hyperammonemia in our patient. Several case reports have implicated infections as catalysts for hyperammonemic episodes in otherwise asymptomatic individuals.…”

Section: Commentmentioning

confidence: 73%

“…1,2 OTC deficiency is an X-linked disorder that results in hyperammonemia and has been associated with cases of postpartum encephalopathy in carriers. 1,3 Here we present a unique case of hyperammonemic coma occurring during the antepartum period in an OTC mutation carrier.…”

Section: Introductionmentioning

confidence: 95%

“…This phenotypic variation is thought to occur due to random inactivation of X chromosomes bearing the mutant allele (lyonization), leading to differing levels of OTC activity among carriers and their tissues. 1,4,5 Affected individuals often exhibit symptoms ranging from dietary protein aversion to profound neuropsychiatric manifestations, such as ataxia, seizures and hyperammonemic encephalopathy. 5,6 Various factors can trigger hyperammonemic crises in individuals with urea cycle disorders, either by increasing the need for nitrogen clearance or by impairing urea cycle enzyme activity in the liver.…”

Section: Commentmentioning

confidence: 99%

“…2,4,5,6 A number of reports have described hyperammonemic encephalopathy in OTC mutation carriers in the immediate postpartum period, when maternal nitrogen burden is increased by collagen breakdown during uterine involution. 1,3 In contrast, there are few reports of women with urea cycle enzyme deficiencies developing hyperammonemic coma during pregnancy. In the only reported death associated with OTC deficiency during pregnancy, a previously asymptomatic woman developed fatal hyperammonemic encephalopathy 2 days after receiving amino-acid-containing TPN at 14 weeks gestation for hyperemesis gravidarum.…”

Section: Commentmentioning

confidence: 99%

“…The ammonia scavengers, sodium phenylbutyrate, sodium benzoate and L-arginine, may be employed to stimulate further removal by alternate pathways. 1,2,5 Further management strategies include administration of intravenous fluids containing dextrose to decrease catabolism, serial serum ammonium evaluations and proactive use of ammonia scavengers. Complete avoidance of protein should not exceed 24 to 48 h, after which depletion of essential amino acids results in a catabolic state and endogenous nitrogen production.…”

Section: Commentmentioning

confidence: 99%

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Hyperammonemic coma in an ornithine transcarbamylase mutation carrier following antepartum corticosteroids

et al. 2011

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Women who are carriers of the ornithine transcarbamylase (OTC) mutation are at risk for developing hyperammonemia during the postpartum period and at times of metabolic stress. We present a unique case of hyperammonemic coma occurring in an OTC mutation carrier during the antepartum period. Multiple factors, including the administration of antenatal corticosteroids, likely precipitated this critical condition. Clinicians should be aware of this lifethreatening clinical presentation and be prepared to identify, treat, and prevent hyperammonemia in affected individuals.

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Section: Commentmentioning

confidence: 73%

Section: Introductionmentioning

confidence: 95%

Section: Commentmentioning

confidence: 99%

Section: Commentmentioning

confidence: 99%

Section: Commentmentioning

confidence: 99%

See 3 more Smart Citations

Hyperammonemic coma in an ornithine transcarbamylase mutation carrier following antepartum corticosteroids

et al. 2011

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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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The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey

Stepien,

Langendonk,

Dao

et al. 2023

J of Inher Metab Disea

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An increasing number of women with urea cycle disorders (UCDs) are reaching child‐bearing age and becoming pregnant. Improved diagnostics and increased awareness of inherited metabolic diseases has also led to more previously undetected women being diagnosed with a UCD during or shortly after pregnancy. Pregnancy increases the risk of acute metabolic decompensation with hyperammonemia—which can occur in any trimester, and/or the postpartum period, and may lead to encephalopathy, psychosis, coma, and even death, if not diagnosed promptly and treated appropriately. There are also (theoretical) concerns that a maternal UCD, or its treatment, may cause potential risks for the unborn child. Currently evidence on management and outcome of pregnancies in UCDs is limited to case reports and there are no clear guidelines. In order to inform management and investigate outcomes of pregnancies in women with a UCD, we performed a retrospective review of published cases and analyzed data collected from an international online survey. We conclude that, although risk during the intra‐ and postpartum period exists, multidisciplinary management by an experienced team and a prospective plan usually result in successful pregnancy, labor, delivery, and postpartum period. No deaths were reported in mothers managed accordingly. With the exception of male neonates with Ornithine Transcarbamylase deficiency, the clinical outcome of children born to mothers with UCDs appears positive, although follow‐up is limited. The outcome for women presenting with a first acute metabolic decompensation during pregnancy or postpartum is less favorable. Deaths were associated with diagnostic delay/late management of hyperammonemia in previously undiagnosed women.

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Acute postpartum mental status change and coma caused by previously undiagnosed ornithine transcarbamylase deficiency

Abstract: Ornithine transcarbamylase deficiency should be included in the differential diagnosis of acute postpartum coma. Hyperammonemia, hyperglutaminemia, and orotic aciduria are diagnostic, facilitate early treatment, and mitigate the risk of permanent neurologic impairment or death.

Cited by 29 publications

References 9 publications

Hyperammonemic coma in an ornithine transcarbamylase mutation carrier following antepartum corticosteroids

Hyperammonemic coma in an ornithine transcarbamylase mutation carrier following antepartum corticosteroids

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

The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey

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