Late-onset presentation of ornithine transcarbamylase deficiency in a young woman with hyperammonemic coma.

Abstract:

:Ornithine transcarbamylase deficiency (OTCD) is an X-linked inherited disease and the most common inborn error in urea synthesis in human patients. In adult heterozygous patients, OTCD can be responsible for life-threatening hyperammonemic coma. We report the case of a 32-year-old woman admitted to our hospital with seizures after a recent high protein load. Her parents related a history of recurrent episodes of vomiting, meat refusal, lethargy, and convulsions since childhood, and measurement of plasma ammonemia levels was the key to early diagnosis of OTCD. We report the pathophysiologic characteristics, clinical features, clinical course, and differential diagnosis of OTCD and discuss the therapeutic options, including continuous venovenous hemodiafiltration and pharmacologic therapy for reduction of plasma ammonemia levels. A diagnosis of OTCD should be considered in adult nonhepatic patients with hyperammonemic coma, particularly if they have a history of protein avoidance and neurologic symptoms. Early recognition and appropriate treatment are critical to avoid severe brain damage and death.

journal_name

Ann Emerg Med

authors

Gaspari R,Arcangeli A,Mensi S,Wismayer DS,Tartaglione T,Antuzzi D,Conti G,Proietti R

doi

10.1067/mem.2003.6

subject

Has Abstract

pub_date

2003-01-01 00:00:00

pages

104-9

issue

1

eissn

0196-0644

issn

1097-6760

pii

S0196064402849290

journal_volume

41

pub_type

杂志文章
  • Emergency department and inpatient hospital use by Medicare beneficiaries in patient-centered medical homes.

    abstract:STUDY OBJECTIVE:Patient-centered medical homes are primary care practices that focus on coordinating acute and preventive care. Such practices can obtain patient-centered medical home recognition from the National Committee for Quality Assurance. We compare growth rates for emergency department (ED) use and costs of ED...

    journal_title:Annals of emergency medicine

    pub_type: 杂志文章

    doi:10.1016/j.annemergmed.2015.01.002

    authors: Pines JM,Keyes V,van Hasselt M,McCall N

    更新日期:2015-06-01 00:00:00

  • Does using heat with eutectic mixture of local anesthetic cream shorten analgesic onset time? A randomized, placebo-controlled trial.

    abstract:STUDY OBJECTIVES:We determine whether the addition of heat to topical eutectic mixture of local anesthetic (EMLA) cream shortens the onset time to effective analgesia. We hypothesized that applying EMLA cream for 20 minutes with an external heat pack would be as effective as the standard 60-minute application time. ME...

    journal_title:Annals of emergency medicine

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1067/mem.2003.228

    authors: Liu DR,Kirchner HL,Petrack EM

    更新日期:2003-07-01 00:00:00

  • Motorcycle helmets and spinal injuries: dispelling the myth.

    abstract:STUDY OBJECTIVE:To determine the relationship between spinal injuries and helmet use in motorcycle trauma. DESIGN:Retrospective case series. SETTING:Twenty-eight hospitals in four midwestern states--Illinois, Iowa, Nebraska and Wisconsin--representing urban, suburban, and rural settings. PATIENTS AND OTHER PARTICIPA...

    journal_title:Annals of emergency medicine

    pub_type: 杂志文章,多中心研究

    doi:10.1016/s0196-0644(94)70317-5

    authors: Orsay EM,Muelleman RL,Peterson TD,Jurisic DH,Kosasih JB,Levy P

    更新日期:1994-04-01 00:00:00

  • Randomized, prospective comparison of open and closed peritoneal lavage for abdominal trauma.

    abstract:STUDY OBJECTIVE:The study was designed to determine if open peritoneal lavage is superior to closed peritoneal lavage. DESIGN AND PARTICIPANTS:Patients who were admitted to a trauma center and needed peritoneal lavage were assigned to alternate trauma teams. Team 1 performed only open lavages one month and then switch...

    journal_title:Annals of emergency medicine

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1016/s0196-0644(05)81067-4

    authors: Troop B,Fabian T,Alsup B,Kudsk K

    更新日期:1991-12-01 00:00:00

  • Observation of head trauma patients at home: a prospective study of compliance in the rural south.

    abstract::A prospective study was conducted to test the reliability of at-home observation of head trauma victims in the rural South among a population of low educational level. During a four-month period, 99 patients entered and 90 patients finished the study. In all cases, an individual was identified as willing to accept the...

    journal_title:Annals of emergency medicine

    pub_type: 杂志文章

    doi:10.1016/s0196-0644(88)80297-x

    authors: Cline DM,Whitley TW

    更新日期:1988-02-01 00:00:00

  • The impact of aeromedical response to patients with moderate to severe traumatic brain injury.

    abstract:STUDY OBJECTIVE:Aeromedical crews offer an advanced level of practice and rapid transport to definitive care; however, their efficacy remains unproven. Previous studies have used relatively small sample sizes or have been unable to adequately control for the effect of other potentially influential variables. Here we ex...

    journal_title:Annals of emergency medicine

    pub_type: 杂志文章

    doi:10.1016/j.annemergmed.2005.01.024

    authors: Davis DP,Peay J,Serrano JA,Buono C,Vilke GM,Sise MJ,Kennedy F,Eastman AB,Velky T,Hoyt DB

    更新日期:2005-08-01 00:00:00

  • The use of antiarrhythmics in advanced cardiac life support.

    abstract::Antiarrhythmic agents have been used to treat malignant ventricular arrhythmias in the setting of acute myocardial ischemia with proven efficacy for many years. Thus, it has been presumed that these agents would be efficacious for the treatment of cardiac arrest. Unfortunately, hard data supporting this contention are...

    journal_title:Annals of emergency medicine

    pub_type: 临床试验,杂志文章,随机对照试验,评审

    doi:10.1016/s0196-0644(05)80461-5

    authors: Jaffe AS

    更新日期:1993-02-01 00:00:00

  • Ketamine sedation for pediatric procedures: Part 2, Review and implications.

    abstract::Ketamine produces rapid and consistent pediatric sedation with a predictable onset and recovery time. A wide margin of safety is afforded without the respiratory and cardiovascular depression commonly seen with alternative agents. The efficacy of ketamine is well established in anesthesia and dentistry and has extensi...

    journal_title:Annals of emergency medicine

    pub_type: 杂志文章,评审

    doi:10.1016/s0196-0644(05)82569-7

    authors: Green SM,Johnson NE

    更新日期:1990-09-01 00:00:00

  • Breath alcohol analyzer mistakes methanol poisoning for alcohol intoxication.

    abstract::Breath alcohol analyzers are used to detect ethanol in motorists and others suspected of public intoxication. One concern is their ability to detect interfering substances that may falsely increase the ethanol reading. A 47-year-old-man was found in a public park, acting intoxicated. A breath analyzer test (Intoxilyze...

    journal_title:Annals of emergency medicine

    pub_type: 杂志文章

    doi:10.1016/j.annemergmed.2009.07.021

    authors: Caravati EM,Anderson KT

    更新日期:2010-02-01 00:00:00

  • Human envenomation from a wandering garter snake.

    abstract::Garter snake bites are generally innocuous to human beings. We report a case of human envenomation from the Wandering Garter snake (Thamnophis elegans vagrans). The patient, who was bitten on his right third fingertip, rapidly developed local edema, ecchymosis, and hemorrhagic vesicles. Systemic signs and symptoms did...

    journal_title:Annals of emergency medicine

    pub_type: 杂志文章

    doi:10.1016/s0196-0644(94)70113-x

    authors: Gomez HF,Davis M,Phillips S,McKinney P,Brent J

    更新日期:1994-05-01 00:00:00

  • Telephone notification of relatives of emergency and critical care patients.

    abstract::Inconsistency in contacting the families of acutely ill patients can negatively affect relatives and induce stress in emergency department staff. Role clarification and performance guidelines are discussed in the context of a telephone notification of relatives checklist, with staff advised in six specific interventio...

    journal_title:Annals of emergency medicine

    pub_type: 杂志文章

    doi:10.1016/s0196-0644(82)80204-7

    authors: Robinson MA

    更新日期:1982-11-01 00:00:00

  • Endocarditis in the emergency department.

    abstract::Clinical presentations and pathogeneses of endocarditis and aspects of its diagnosis and management relevant to emergency department practice are reviewed. Guidelines for admission, laboratory evaluation, and decisions regarding the initiation of therapy in the ED are offered. Also discussed are the role of the emerge...

    journal_title:Annals of emergency medicine

    pub_type: 杂志文章,评审

    doi:10.1016/s0196-0644(05)81663-4

    authors: Delaney KA

    更新日期:1991-04-01 00:00:00

  • Paliperidone overdose with delayed onset of toxicity.

    abstract::Paliperidone, or 9-hydroxy risperidone, is the newest atypical antipsychotic agent to be approved for use by the Food and Drug Administration. Despite being the primary active metabolite of risperidone, paliperidone differs in several ways from risperidone. The most notable difference is that paliperidone is formulate...

    journal_title:Annals of emergency medicine

    pub_type: 杂志文章

    doi:10.1016/j.annemergmed.2010.10.015

    authors: Levine M,Lovecchio F,Tafoya P,Graham R

    更新日期:2011-07-01 00:00:00

  • A blinded, randomized controlled trial to evaluate ketamine/propofol versus ketamine alone for procedural sedation in children.

    abstract:STUDY OBJECTIVE:The primary objective is to compare total sedation time when ketamine/propofol is used compared with ketamine alone for pediatric procedural sedation and analgesia. Secondary objectives include time to recovery, adverse events, efficacy, and satisfaction scores. METHODS:Children (aged 2 to 17 years) re...

    journal_title:Annals of emergency medicine

    pub_type: 杂志文章,随机对照试验

    doi:10.1016/j.annemergmed.2010.08.032

    authors: Shah A,Mosdossy G,McLeod S,Lehnhardt K,Peddle M,Rieder M

    更新日期:2011-05-01 00:00:00

  • Prospective evaluation of mild to moderate pediatric acetaminophen exposures.

    abstract:STUDY OBJECTIVE:To determine whether pediatric patients with acute, mild to moderate acetaminophen exposures, treated with home monitoring alone, develop systemic signs of hepatic injury. METHODS:A prospective, observational study of calls to a regional poison center over a 25-month period was performed. Patients were...

    journal_title:Annals of emergency medicine

    pub_type: 杂志文章

    doi:10.1016/s0196-0644(00)70074-6

    authors: Mohler CR,Nordt SP,Williams SR,Manoguerra AS,Clark RF

    更新日期:2000-03-01 00:00:00

  • Conference attendance: do we meet the new residency review committee requirements?

    abstract:STUDY OBJECTIVES:To characterize the attendance at and presenters of conferences given to emergency medicine residents and to determine the ability of emergency medicine residents to attend conferences while working in the emergency department and on off-service rotations. DESIGN:Descriptive study of an anonymous mail...

    journal_title:Annals of emergency medicine

    pub_type: 杂志文章

    doi:10.1016/s0196-0644(95)70288-1

    authors: Austin PE,Brown CK,Dunn KA

    更新日期:1995-03-01 00:00:00

  • Emergency medicine tools to manage smallpox (vaccinia) vaccination complications: clinical practice guideline and policies and procedures.

    abstract::In December 2002, the federal government began a program to immunize approximately 500000 civilian public health and health care workers with smallpox (vaccinia) vaccine as a part of our pre-event defense against bioterrorism. First responders will likely follow, and the general US population might be offered vaccinat...

    journal_title:Annals of emergency medicine

    pub_type: 杂志文章,评审

    doi:10.1016/s0196-0644(03)00629-2

    authors: Thorne CD,Hirshon JM,Himes CD,McDiarmid MA

    更新日期:2003-11-01 00:00:00

  • A randomized trial of intravenous ketorolac versus intravenous metoclopramide plus diphenhydramine for tension-type and all nonmigraine, noncluster recurrent headaches.

    abstract:STUDY OBJECTIVE:We compare metoclopramide 20 mg intravenously, combined with diphenhydramine 25 mg intravenously, with ketorolac 30 mg intravenously in adults with tension-type headache and all nonmigraine, noncluster recurrent headaches. METHODS:In this emergency department (ED)-based randomized, double-blind study, ...

    journal_title:Annals of emergency medicine

    pub_type: 杂志文章,随机对照试验

    doi:10.1016/j.annemergmed.2013.03.017

    authors: Friedman BW,Adewunmi V,Campbell C,Solorzano C,Esses D,Bijur PE,Gallagher EJ

    更新日期:2013-10-01 00:00:00

  • Lisfranc fracture-dislocation: a frequently missed diagnosis in the emergency department.

    abstract::Lisfranc fracture-dislocations are rare, and their correct diagnosis is important. Misdiagnosis is common and can lead to grave, chronic disability. We present two cases of Lisfranc fracture-dislocation to highlight the mechanisms of injury, clinical presentation, diagnosis, and treatment. Accurate diagnosis by emerge...

    journal_title:Annals of emergency medicine

    pub_type: 杂志文章

    doi:10.1016/s0196-0644(95)70156-7

    authors: Englanoff G,Anglin D,Hutson HR

    更新日期:1995-08-01 00:00:00

  • Persistent hiccups.

    abstract::We present the case of a patient who presented with persistent hiccups induced by a hair irritating the tympanic membrane and activating the vagally mediated hiccup neural reflex arc. Commonly identified etiologies and treatments of this condition are then reviewed. ...

    journal_title:Annals of emergency medicine

    pub_type: 杂志文章

    doi:10.1016/s0196-0644(82)80009-7

    authors: Wagner MS,Stapczynski JS

    更新日期:1982-01-01 00:00:00

  • Decision making in prehospital sudden cardiac arrest.

    abstract::Many studies of prehospital resuscitation report on selected populations. We examined a series of 445 unselected nontraumatic cardiac arrests. Emergency cardiac care (ECC) was not initiated in 126 (28%). ECC was begun in 319 (78%), but was terminated in 132 (33%). Ninety-four (21%) were admitted to the hospital with p...

    journal_title:Annals of emergency medicine

    pub_type: 杂志文章

    doi:10.1016/s0196-0644(86)80185-8

    authors: Aprahamian C,Thompson BM,Gruchow HW,Mateer JR,Tucker JF,Stueven HA,Darin JC

    更新日期:1986-04-01 00:00:00

  • Coacaethylene levels in patients who test positive for cocaine.

    abstract:STUDY OBJECTIVE:To determine the presence of cocaethylene, an active metabolite of the combination of cocaine and ethanol, among trauma patients who test positive for cocaine. METHODS:We assembled a case series of 416 consecutive urban trauma center patients with major trauma. Urine was tested for the presence of the ...

    journal_title:Annals of emergency medicine

    pub_type: 杂志文章

    doi:10.1016/s0196-0644(96)70266-4

    authors: Brookoff D,Rotondo MF,Shaw LM,Campbell EA,Fields L

    更新日期:1996-03-01 00:00:00

  • Needlestick injuries and hepatitis B immunization in Florida paramedics: a statewide survey.

    abstract:STUDY OBJECTIVES:To determine the incidence of needlestick injury among paramedics working in Florida during 1987, to describe the circumstances surrounding such injuries, and to assess the hepatitis B vaccination status of this group. DESIGN:Survey of a systematic random sample of paramedics using a self-administered...

    journal_title:Annals of emergency medicine

    pub_type: 杂志文章

    doi:10.1016/s0196-0644(05)81072-8

    authors: Klontz KC,Gunn RA,Caldwell JS

    更新日期:1991-12-01 00:00:00

  • Sports-related pneumothorax.

    abstract::Pneumothorax and pneumomediastinum are rare complications of athletic activity. Spontaneous pneumothorax has been reported in association with several sports, but reports of pneumothorax associated with blunt trauma sustained during sporting activity are rare. We present a case series of patients in whom pneumothorax ...

    journal_title:Annals of emergency medicine

    pub_type: 杂志文章

    doi:10.1016/s0196-0644(97)70018-0

    authors: Partridge RA,Coley A,Bowie R,Woolard RH

    更新日期:1997-10-01 00:00:00

  • Clinical policy: Critical issues in the evaluation and management of adult patients presenting to the emergency department with seizures.

    abstract::This clinical policy focuses on critical issues in the evaluation and management of adult patients with seizures. The medical literature was reviewed for articles that pertained to the critical questions posed. Subcommittee members and expert peer reviewers also supplied articles with direct bearing on this policy. Th...

    journal_title:Annals of emergency medicine

    pub_type: 指南,杂志文章,实务指引

    doi:10.1016/S019606440400068X

    authors: ACEP Clinical Policies Committee.,Clinical Policies Subcommittee on Seizures.

    更新日期:2004-05-01 00:00:00

  • Varicella: pediatric genital/rectal vesicular lesions of unclear origin.

    abstract::Three children who presented with localized vesicular rash in the diaper area were found to have primary varicella-zoster infections. Primary varicella can closely mimic genital herpes simplex virus (HSV 1 or 2), which may be an indicator of sexual abuse. To avoid unfounded investigation for sexual abuse, primary vari...

    journal_title:Annals of emergency medicine

    pub_type: 杂志文章

    doi:10.1016/s0196-0644(95)70365-9

    authors: Simon HK,Steele DW

    更新日期:1995-01-01 00:00:00

  • Beer potomania: an unusual cause of symptomatic hyponatremia.

    abstract::A 43-year-old woman presented to the emergency department with acute agitation, confusion, and tonic seizures. She had a history of drug abuse, most notably beer, which constituted her major dietary intake. The patient's seizures were at first thought to be factitious in association with an acute psychosis; however, h...

    journal_title:Annals of emergency medicine

    pub_type: 杂志文章

    doi:10.1016/s0196-0644(86)80442-5

    authors: Joyce SM,Potter R

    更新日期:1986-06-01 00:00:00

  • Neutral cervical spine positioning in children.

    abstract:STUDY OBJECTIVES:To determine the height of back elevation required to place the cervical spine of children less than 8 years old in neutral position and whether agreement on the height required for neutral position could be reached by two independent observers. STUDY DESIGN:Prospective. SETTING:Pediatric emergency d...

    journal_title:Annals of emergency medicine

    pub_type: 杂志文章

    doi:10.1016/s0196-0644(94)70032-x

    authors: Nypaver M,Treloar D

    更新日期:1994-02-01 00:00:00

  • Pufferfish poisoning: emergency diagnosis and management of mild human tetrodotoxication.

    abstract::A 45-year-old man ate the liver of the toxic pufferfish (Diodron hystrix) and developed mild tetrodotoxication consisting of hyperemesis, bradycardia, hypotension, generalized numbness, and a generalized paresis. He was treated with atropine, normal saline IV infusions, nasogastric suction, and oxygen, and he recovere...

    journal_title:Annals of emergency medicine

    pub_type: 杂志文章

    doi:10.1016/s0196-0644(86)80135-4

    authors: Sims JK,Ostman DC

    更新日期:1986-09-01 00:00:00

  • Intravenous morphine at 0.1 mg/kg is not effective for controlling severe acute pain in the majority of patients.

    abstract:STUDY OBJECTIVE:The objective was to quantify the analgesic effect of a dose of intravenous morphine, 0.1 mg/kg, to emergency department (ED) patients presenting in acute, severe pain. METHODS:This was a prospective convenience cohort of patients aged 21 to 65 years and presenting to an academic urban ED with acute, s...

    journal_title:Annals of emergency medicine

    pub_type: 杂志文章

    doi:10.1016/j.annemergmed.2005.03.010

    authors: Bijur PE,Kenny MK,Gallagher EJ

    更新日期:2005-10-01 00:00:00