Abstract：
OBJECTIVE:Long-term survival of patients with neonatal-onset carbamoyl-phosphate synthetase 1 deficiency (CPS1D), an autosomal recessive disorder characterized by repeated, life-threatening hyperammonemia, is rare. We describe the diagnosis and clinical management of a teenager with neonatal-onset CPS1D who did not undergo therapeutic liver transplantation. CASE REPORT:Following emergent neonatal therapy, the patient was diagnosed with CPS1D based on clinical, radiological, biochemical and genetic analyses. Her clinical course, neurobehavioral development and therapeutic interventions are presented and discussed. RESULTS:Born from nonconsanguineous parents, the proband underwent phototherapy for neonatal jaundice, associated with acute encephalopathy, apnea and cerebral edema. Based on blood and urinary biochemical abnormalities, neonatal-onset CPS1D was diagnosed. Her hyperammonemia was corrected by hemodialysis, followed by sodium benzoate, L-arginine, levocarnitine and protein-free diet therapy. Because of a relapse and persistent neurobehavioral regression by age 1, a planned liver transplantation was cancelled. At age 10, sodium phenylbutyrate was substituted as ammonia scavenger. Genetic testing revealed compound heterozygote c.2359C>T (R787X) and c.236+6T>C variants of CPS1, confirming her diagnosis. Despite severe neurological sequelae, the patient is 16 and in stable condition. CONCLUSIONS:Our case suggests that early hemodialysis and pharmacologic interventions for acute neonatal hyperammonemia can improve the prognosis of patients with neonatal-onset CPS1D.
journal_name
Eur Rev Med Pharmacol Scijournal_title
European review for medical and pharmacological sciencesauthors
Imataka G,Ishii J,Ando Y,Yoshihara S,Takagi Y,Nitta A,Arisaka O,Yoshihara Sdoi
10.26355/eurrev_202010_23220subject
Has Abstractpub_date
2020-10-01 00:00:00pages
10051-10053issue
19eissn
1128-3602issn
2284-0729journal_volume
24pub_type
杂志文章abstract：OBJECTIVE:In healthy persons, cardiovascular risk is the result of multiple interacting risk associates including demographic, clinical, genetic and environmental factors. Several non-invasive tools such as echocardiography, ultrasonography and electrocardiography as well as new biochemical markers were shown to be app...
journal_title：European review for medical and pharmacological sciences
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journal_title：European review for medical and pharmacological sciences
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更新日期：2014-01-01 00:00:00
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journal_title：European review for medical and pharmacological sciences
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更新日期：2014-01-01 00:00:00
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更新日期：2016-01-01 00:00:00
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