Anesthetic Management of Patients With Inborn Errors of Metabolism

Abstract

Inborn errors of metabolism (IEM) are characterized by the body's inability to convert food into energy. The pathogenetic mechanism is based on defects in a variety of cellular enzymes. In addition to impairment of energy generation, accumulation of substrates may occur, which can deposit in tissue and lead to organ dysfunction. IEM can have profound implications for perioperative management, including difficult airway management, cardiac dysfunction, aspiration risk, seizures, and metabolic dysregulation. For the anesthesiologist, comprehensive knowledge is difficult to attain because of the heterogeneity of this group and the low prevalence of specific diseases. The first part of this article reviews intermediary metabolism, whereas the second part aims to highlight important aspects in perioperative management of patients with IEM. Instead of reviewing each single disorder within the vast group of IEM, we provide a conceptual framework that will facilitate the understanding of main problems encountered in each of the disease subgroups.

Airway management in patients with mucopolysaccharidoses: The progression toward difficult intubation

“…The mucopolysaccharidoses (MPS) encompass a group of disease states caused by mutations in lysosomal hydrolase enzymes . There are seven forms of MPS, which are due to a combination of eleven enzyme deficiencies.…”

Anesthetic management of pediatric patients diagnosed with X‐linked adrenoleukodystrophy: A single‐center experience

“…22 Anesthetic management of patients with X-ALD can be complicated by spasticity, hypotonia, dysphagia, gastroesophageal reflux, aspiration, adrenal insufficiency, seizures, cognitive dysfunction and possible vision and/or hearing impairment. 8,[23][24][25] Our tertiary referral hospital is a major HSCT center that provides care for a number of children diagnosed with X-ALD. In this manuscript, we review and report our experience during anesthesia care for children with X-ALD with a focus on perioperative management, airway instrumentation, drug administration and postoperative complications.…”

“…While X‐ALD is categorized under the umbrella term “peroxisomal disorders,” it belongs to the subgroup of peroxisome enzyme defects, which also include acyl‐CoA oxidase deficiency, and classic/adult Refsum disease. Peroxisome enzyme defects need to be distinguished from disturbances of peroxisome formation, or Zellweger spectrum disorders, which include Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease …”

“…Anesthetic management of patients with X‐ALD can be complicated by spasticity, hypotonia, dysphagia, gastroesophageal reflux, aspiration, adrenal insufficiency, seizures, cognitive dysfunction and possible vision and/or hearing impairment …”

“…Peroxisome enzyme defects need to be distinguished from disturbances of peroxisome formation, or Zellweger spectrum disorders, which include Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease. 8,9 The phenotypic expression of the gene defect responsible for X-ALD varies considerably and may present with a spectrum of clinical signs and symptoms that result from dysfunction of organs subjected to lipid deposition. As such, attempts to categorize the different phe- A retrospective study by Huffnagel et al 10 found that the first manifestation of X-ALD was adrenal insufficiency in 37.7% of cases, followed by spinal cord disease (25.2%) and cerebral disease (14.5%).…”