Considerations for prenatal and postpartum management of a female patient with ornithine transcarbamylase deficiency

Feigenbaum, Annette; Lamale‐Smith, Leah; Weinstein, Lawrence

doi:10.1016/j.ymgmr.2022.100894

Cited by 4 publications

(2 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Acute, severe presentations of “mild” UCDs typically occur in times of significant metabolic stress where ammonia production is elevated via catabolism, proteolysis, ingestion, or microbial production, and/or where buffering is decreased, as occurs with muscle loss or sarcopenia. Typical triggers for metabolic decompensation in patients with mild UCDs include critical illness, particularly with acute kidney injury, catabolic states with or without the use of high-protein containing total parenteral nutrition, with gastrointestinal or other hemorrhage, severe trauma, postpartum or perioperative stress, and with certain infections [20–22,23 ▪ ]. Medications like valproate or chemotherapeutics may inhibit an already-deficient urea cycle, while others, like glucocorticoids, may escalate ammonia production [1 ▪▪ ,2 ▪ ] (Table 2).…”

Section: Introductionmentioning

confidence: 99%

“…Prevention of metabolic decompensation is crucial for patients with known UCDs who present with critical illness, trauma, or infection or who have perioperative, procedural or obstetric needs [23 ▪ ,43]. Early engagement of teams with experience in the management of UCDs is crucial, and plans for urgent or emergent needs should be established before procedures and other windows of expected physiologic stress.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Urea cycle disorders in critically Ill adults

Long,

Kruser,

Quinonez

2023

Current Opinion in Clinical Nutrition &Amp; Metabolic Care

View full text Add to dashboard Cite

Purpose of review Urea cycle disorders (UCDs) cause elevations in ammonia which, when severe, cause irreversible neurologic injury. Most patients with UCDs are diagnosed as neonates, though mild UCDs can present later - even into adulthood - during windows of high physiologic stress, like critical illness. It is crucial for clinicians to understand when to screen for UCDs and appreciate how to manage these disorders in order to prevent devastating neurologic injury or death. Recent findings Hyperammonemia, particularly if severe, causes time- and concentration-dependent neurologic injury. Mild UCDs presenting in adulthood are increasingly recognized, so broader screening in adults is recommended. For patients with UCDs, a comprehensive, multitiered approach to management is needed to prevent progression and irreversible injury. Earlier exogenous clearance is increasingly recognized as an important complement to other therapies. Summary UCDs alter the core pathway for ammonia metabolism. Screening for mild UCDs in adults with unexplained neurologic symptoms can direct care and prevent deterioration. Management of UCDs emphasizes decreasing ongoing ammonia production, avoiding catabolism, and supporting endogenous and exogenous ammonia clearance. Core neuroprotective and supportive critical care supplements this focused therapy.

show abstract

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Urea cycle disorders in critically Ill adults

Long,

Kruser,

Quinonez

2023

Current Opinion in Clinical Nutrition &Amp; Metabolic Care

View full text Add to dashboard Cite

show abstract

Advancing precision care in pregnancy through an actionable fetal findings list

Cohen,

Duyzend,

Adelson

et al. 2024

Preprint

View full text Add to dashboard Cite

The use of genomic sequencing (GS) for prenatal diagnosis of fetuses with sonographic abnormalities has grown tremendously over the past decade. Fetal GS also offers an opportunity to identify incidental genomic variants that are unrelated to the fetal phenotype, but may be relevant to fetal and newborn health. There are currently no guidelines for reporting incidental findings from fetal GS. In the United States, GS for adults and children is recommended to include a list of "secondary findings" genes (ACMG SF v3.2) that are associated with disorders for which surveillance or treatment can reduce morbidity and mortality. The genes on ACMG SF v3.2 predominantly cause adult-onset disorders. Importantly, many genetic disorders with fetal and infantile onset are actionable as well. A proposed solution is to create a "fetal actionable findings list," which can be offered to pregnant patients undergoing fetal GS or eventually, as a standalone cell-free fetal DNA screening test. In this integrative review, we propose criteria for an actionable fetal findings list, then identify genetic disorders with clinically available or emerging fetal therapies, and those for which clinical detection in the first week of life might lead to improved outcomes. Finally, we synthesize the potential benefits, limitations, and risks of an actionable fetal findings list.

show abstract

Perinatal management and follow-up in a child with a prenatal diagnosis of OTC deficiency: a case report

Martín-Rivada,

Murray Hurtado,

Martín-Hernández

2024

Front. Nutr.

View full text Add to dashboard Cite

Ornithine transcarbamylase deficiency (OTCD) is the most common disorder of the urea cycle and is caused by a mutation of the OTC gene, located on chromosome X. Its prevalence is estimated at 1 in 80,000 to 56,500 births, but this X-chromosomal inheritance results in males being more affected than females. In neonates affected with this disorder, hyperammonemia after birth can lead to neurological and liver damage that can be fatal. We present a child with a prenatal diagnosis based on an older sibling with the same pathology, which led us to adopt an intensive treatment since the delivery. He was admitted in a neonatal unit and treatment with protein restriction, 10% glucose saline serum and glycerol phenylbutyrate was initiated. To date, after 3.5 years of follow up, growth and neurological development have been adequate, biochemical control has been appropriate except for a simple and mild decompensation during the course of a gastroenteritis. This case emphasises the importance of early diagnosis and treatment to avoid potential complications.

show abstract

Considerations for prenatal and postpartum management of a female patient with ornithine transcarbamylase deficiency

Cited by 4 publications

References 27 publications

Urea cycle disorders in critically Ill adults

Urea cycle disorders in critically Ill adults

Advancing precision care in pregnancy through an actionable fetal findings list

Perinatal management and follow-up in a child with a prenatal diagnosis of OTC deficiency: a case report

Contact Info

Product

Resources

About