Positive Malignant Hyperthermia Susceptibility In Vitro  Test in a Patient with Mitochondrial Myopathy and Myoadenylate Deaminase Deficiency

Fricker, Ruth; Raffelsberger, Thomas; Rauch-Shorny, Sigrid; Finsterer, Josef; Müller-Reible, Clemens; Gilly, H.; Bittner, Reginald E.

doi:10.1097/00000542-200212000-00044

Cited by 39 publications

(22 citation statements)

References 9 publications

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“…The publication of a few cases connecting malignant hyperthermia with mitochondrial disorders provoked confusion about this subject for some time [17,18]. Footit et al retrospectively studied 38 mitochondrial patients who had undergone 58 anesthesias using various induction and maintenance anesthetic agents in a seven-year period in an effort to demonstrate the standard practice and perioperative adverse events.…”

Section: Discussionmentioning

confidence: 99%

The child with glutaric aciduria type I: anesthetic and perioperative management

et al. 2011

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Glutaric aciduria type I (GA-1) is an inborn error of metabolism caused by a deficiency of glutaryl-CoA dehydrogenase. It presents early in life, usually after an episode of fever, dehydration, infection or fasting, and results in metabolic decompensation and neurologic damage. We report the perioperative management of a 5-year-old boy admitted to the hospital for surgery because of neurogenic hip dislocation. Here we present the preoperative preparation, which focused on appropriate fluid administration and therapy intensification, as well as the safe anesthetic management with inhalation anesthesia and remifentanil, taking into consideration the mitochondrial basis of the disease. Furthermore, the role of postoperative care is emphasized in relation to stress response prophylaxis and the avoidance of complications related to the disorder.

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Section: Discussionmentioning

confidence: 99%

The child with glutaric aciduria type I: anesthetic and perioperative management

et al. 2011

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“…Fricker et al [2] reported a patient with mitochondrial myopathy accompanied by myoadenylate deaminase deficiency who was highly sensitive to his malignant hyperthermia. However, Morgan et al [7] and Burns et al [8] reported that there was no significant change in the patient's body temperature when using sevoflurane and isoflurane for general anesthesia.…”

Section: Discussionmentioning

confidence: 99%

“…Diseases caused by mitochondrial dysfunctions, such as MELAS syndrome, have clinical manifestations predominantly in organs that require a lot of energy, such as brain, lungs, liver, and kidneys. Patients with the MELAS syndrome have reportedly experienced malignant hyperthermia, hypothermia, and resistance to muscle relaxants or their prolonged effects [2-6]. This case report describes the experiences with total intravenous anesthesia using target-controlled infusion of propofol and remifentanil to a MELAS syndrome patient undergoing a laparoscopic appendectomy.…”

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confidence: 99%

Total intravenous anesthesia with propofol and remifentanil in a patient with MELAS syndrome -A case report-

Park

Baek

Kang

et al. 2010

Korean J Anesthesiol

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A 23-year-old woman with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) underwent a laparoscopy-assisted appendectomy. MELAS syndrome is a multisystemic disease caused by mitochondrial dysfunction. General anesthesia has several potential hazards to patients with MELAS syndrome, such as malignant hyperthermia, hypothermia, and metabolic acidosis. In this case, anesthesia was performed with propofol, remifentanil TCI, and atracurium without any surgical or anesthetic complications. We discuss the anesthetic effects of MELAS syndrome.

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“…Although there have been anecdotal reports of malignant hyperthermia in patients with enzymatic defects involving the mitochondria, the association is not universal and the use of volatile agents has been demonstrated to be safe and as demonstrated in the reports reviewed in Table 1 has been shown to be safe and effective in patients with GA [35][36][37][38]. Of note, carnitine deficiency is a frequent secondary finding in patients with GA. As carnitine is an essential cofactor in the transport of long-chain fatty acids into the mitochondria and has a pivotal role in fatty acid oxidation, it has been suggested that propofol should be avoided in this condition.…”

Section: Goktas Et Al [28]mentioning

confidence: 99%

Perioperative Management of a Patient With Glutaric Aciduria

et al. 2015

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Glutaric aciduria type-1 (GA-1) is an autosomal recessive metabolic disorder due to the deficiency of the enzyme, glutaryl-CoA dehydrogenase. The enzymatic defect leads to secondary damage to the central nervous system due to the accumulation of glutaric acid. Due to the progressive neurologic effects with spasticity and orthopedic deformities, surgical and anesthetic cares are frequently required. We present a 13-year-old girl with glutaric acidemia type 1 who required anesthetic care for posterior spinal fusion. Previous reports of anesthetic care for these patients are reviewed, the end-organ involvement is discussed, and options for anesthetic care are presented.

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Positive Malignant Hyperthermia Susceptibility In Vitro Test in a Patient with Mitochondrial Myopathy and Myoadenylate Deaminase Deficiency

Cited by 39 publications

References 9 publications

The child with glutaric aciduria type I: anesthetic and perioperative management

The child with glutaric aciduria type I: anesthetic and perioperative management

Total intravenous anesthesia with propofol and remifentanil in a patient with MELAS syndrome -A case report-

Perioperative Management of a Patient With Glutaric Aciduria

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