scholarly journals Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department

Diagnostics ◽  
2021 ◽  
Vol 11 (11) ◽  
pp. 2148
Author(s):  
Isabel Solares ◽  
Carlos Heredia-Mena ◽  
Francisco Javier Castelbón ◽  
Daniel Jericó ◽  
Karol Marcela Córdoba ◽  
...  
Keyword(s):  
Emergency Department ◽  
Clinical Outcome ◽  
Metabolic Pathway ◽  
Metabolic Disorder ◽  
Inborn Errors Of Metabolism ◽  
Early Recognition ◽  
Pediatric Population ◽  
Inborn Errors ◽  
Diagnosis And Management ◽  
Important Group

Inborn errors of metabolism (IEM) constitute an important group of conditions characterized by an altered metabolic pathway. There are numerous guidelines for the diagnosis and management of IEMs in the pediatric population but not for adults. Given the increasing frequency of this group of conditions in adulthood, other clinicians in addition to pediatricians should be aware of them and learn to identify their characteristic manifestations. Early recognition and implementation of an appropriate therapeutic approach would improve the clinical outcome of many of these patients. This review presents when and how to investigate a metabolic disorder with the aim of encouraging physicians not to overlook a treatable disorder.

scholarly journals Profound metabolic acidosis from pyroglutamic acidemia: an underappreciated cause of high anion gap metabolic acidosis

CJEM ◽  
2010 ◽  
Vol 12 (05) ◽  
pp. 449-452 ◽  
Author(s):  
Thomas J. Green ◽  
Jan Jaap Bijlsma ◽  
David D. Sweet
Keyword(s):  
Emergency Department ◽  
Lactic Acid ◽  
Metabolic Acidosis ◽  
Ethylene Glycol ◽  
Inborn Errors Of Metabolism ◽  
Pyroglutamic Acid ◽  
Anion Gap ◽  
Emergency Patient ◽  
Inborn Errors ◽  
Chronic Ingestion

ABSTRACTThe workup of the emergency patient with a raised anion gap metabolic acidosis includes assessment of the components of “MUDPILES” (methanol; uremia; diabetic ketoacidosis; paraldehyde; isoniazid, iron or inborn errors of metabolism; lactic acid; ethylene glycol; salicylates). This approach is usually sufficient for the majority of cases in the emergency department; however, there are many other etiologies not addressed in this mnemonic. Organic acids including 5-oxoproline (pyroglutamic acid) are rare but important causes of anion gap metabolic acidosis. We present the case of a patient with profound metabolic acidosis with raised anion gap, due to pyroglutamic acid in the setting of malnutrition and chronic ingestion of acetaminophen.

Inborn errors of metabolism in the Italian pediatric population: A national retrospective survey

2002 ◽  
Vol 140 (3) ◽  
pp. 321-329 ◽  
Author(s):  
Carlo Dionisi-Vici ◽  
Cristiano Rizzo ◽  
Alberto B. Burlina ◽  
Ubaldo Caruso ◽  
Gaetano Sabetta ◽  
...  
Keyword(s):  
Inborn Errors Of Metabolism ◽  
Pediatric Population ◽  
Inborn Errors ◽  
Retrospective Survey

The Crashing Neonate

2020 ◽  
pp. 15-30
Author(s):  
Thomas M. Kennedy ◽  
Ghazala Q. Sharieff
Keyword(s):  
United States ◽  
Emergency Department ◽  
Inborn Errors Of Metabolism ◽  
Clinical Information ◽  
The United States ◽  
Emergency Department Visits ◽  
Metabolic Abnormalities ◽  
Midgut Volvulus ◽  
Inborn Errors ◽  
Hospital Policies

An increasing incidence of newborn emergency department visits in the United States has been documented; this may be due to a higher number of home births and hospital policies directing earlier discharge of newborns from nurseries. Although many of these visits are for benign conditions, it is imperative that the emergency physician know how to manage a critically ill neonate (a newborn in the first 28 days of life). The mnemonic, THE MISFITS, provides a method for remembering many of the serious conditions that present acutely in the neonatal period: trauma (accidental trauma and child abuse), heart disease (structural and nonstructural) and hypovolemia, endocrinopathies, metabolic abnormalities (electrolyte imbalances), inborn errors of metabolism, sepsis, formula mishaps (under- or overdilution), intestinal catastrophes (e.g., necrotizing enterocolitis and midgut volvulus), toxic exposures, and seizures. This chapter provides the essential clinical information for several of these conditions.

scholarly journals Metabolomics to Improve the Diagnostic Efficiency of Inborn Errors of Metabolism

2020 ◽  
Vol 21 (4) ◽  
pp. 1195 ◽  
Author(s):  
Dylan Mordaunt ◽  
David Cox ◽  
Maria Fuller
Keyword(s):  
Mass Spectrometry ◽  
Inborn Errors Of Metabolism ◽  
Early Recognition ◽  
Laboratory Diagnosis ◽  
Screening Tests ◽  
Diagnostic Efficiency ◽  
Inborn Errors ◽  
Screening Programs ◽  
Initiation Of Therapy ◽  
Delays In Diagnosis

Early diagnosis of inborn errors of metabolism (IEM)—a large group of congenital disorders—is critical, given that many respond well to targeted therapy. Newborn screening programs successfully capture a proportion of patients enabling early recognition and prompt initiation of therapy. For others, the heterogeneity in clinical presentation often confuses diagnosis with more common conditions. In the absence of family history and following clinical suspicion, the laboratory diagnosis typically begins with broad screening tests to circumscribe specialised metabolite and/or enzyme assays to identify the specific IEM. Confirmation of the biochemical diagnosis is usually achieved by identifying pathogenic genetic variants that will also enable cascade testing for family members. Unsurprisingly, this diagnostic trajectory is too often a protracted and lengthy process resulting in delays in diagnosis and, importantly, therapeutic intervention for these rare conditions is also postponed. Implementation of mass spectrometry technologies coupled with the expanding field of metabolomics is changing the landscape of diagnosing IEM as numerous metabolites, as well as enzymes, can now be measured collectively on a single mass spectrometry-based platform. As the biochemical consequences of impaired metabolism continue to be elucidated, the measurement of secondary metabolites common across groups of IEM will facilitate algorithms to further increase the efficiency of diagnosis.

scholarly journals Common metabolic disorder (inborn errors of metabolism) concerns in primary care practice

2018 ◽  
Vol 6 (24) ◽  
pp. 469-469 ◽  
Author(s):  
Marisha Agana ◽  
Julia Frueh ◽  
Manmohan Kamboj ◽  
Dilip R. Patel ◽  
Shibani Kanungo
Keyword(s):  
Primary Care ◽  
Metabolic Disorder ◽  
Inborn Errors Of Metabolism ◽  
Primary Care Practice ◽  
Care Practice ◽  
Inborn Errors

Early recognition and critical management of adult epiglottitis in the emergency department: a case report and review of the literature

2021 ◽  
Keyword(s):  
Emergency Department ◽  
Airway Management ◽  
Early Recognition ◽  
Pediatric Population ◽  
Delayed Diagnosis ◽  
Lateral Neck ◽  
Review Of The Literature ◽  
Acute Epiglottitis ◽  
Case Presentation ◽  
Life Threatening

Background: Acute epiglottitis was considered a disease of the pediatric population. However, it has constantly been a report of a certain number of adult cases. Death by airway obstruction is caused by delayed diagnosis and untimely invasive airway management contributing to the higher mortality rate in adults. Case presentation: We presented a case of a 24-year-old male patient without significant underlying condition, who presented at our emergency department with a progressive sore throat and high-graded fever for one day. After a set of investigations, the patient was diagnosed with acute epiglottitis, and airway management was managed accordingly. His conditions improved after a course of antibiotic treatment during hospital admission. Conclusion: Acute epiglottitis in adults is not frequently encountered in the emergency department. This case underlines the importance of clinical suspicions in cases with consistent symptoms as well as the excellent utility of lateral neck radiography for the diagnosis of this life-threatening entity.

scholarly journals The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective

2020 ◽  
Vol 131 (3) ◽  
pp. 285-288
Author(s):  
Mohamed A. Elmonem ◽  
Amaya Belanger-Quintana ◽  
Andrea Bordugo ◽  
Ritma Boruah ◽  
Elisenda Cortès-Saladelafont ◽  
...  
Keyword(s):  
Inborn Errors Of Metabolism ◽  
Global Perspective ◽  
Inborn Errors ◽  
Diagnosis And Management ◽  
The Impact
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