Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022716 (Menkes)
 1,057 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The author presents and discusses the anaesthetic implications of a four-month-old infant with Menkes' syndrome who required tracheostomy. Menkes' syndrome is an X-linked recessive disorder of copper absorption and metabolism. Defective processing of copper results in abnormalities of several enzyme systems leading to severe dysfunction of multiple organ systems. Due to the progressive nature of this disorder and its severe effects on several different organ systems, most importantly the central nervous system, these children frequently require anaesthetic care during imaging procedures such as MRI or during various surgical operations. The high prevalence of seizure disorders, gastroesophageal reflux with the risk of aspiration, and airway complications related to poor pharyngeal muscle control are of concern to the anaesthetist. In addition, defective collagen formation, similar to that seen in Ehlers-Danlos syndrome, may be present. Identification of these associated conditions during the preoperative examination will guide the selection of appropriate, safe anaesthetic care for these children.
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PMID:Anaesthetic considerations in the child with Menkes' syndrome. 139 61

Menkes disease is a rare sex-linked disorder of copper metabolism, characterized with several multiple organ dysfunctions. It is frequently associated with seizure disorders, mental retardation, and urologic abnormalities. It may also have some serious respiratory complications, such as upper airway obstruction related to micrognathia, risks of gastroesophageal reflux and the aspiration with poor pharyngeal muscle control, and hazard to easy cerebral bleeding to noxious stimuli and easy fracture of the bones. We report a 1 year and 10 month-old boy of Menkes disease with a large bladder diverticulum associated with persistent urinary tract infections who required the surgical treatment. Cystostomy was scheduled and performed under general anesthesia. In the preoperative examination, three-dimentional computed tomography images were essential and very useful for preanesthetic anatomical evaluation of the upper airway, which revealed subglottic narrowing with micrognathia. Considering the anticipated difficulty of the tracheal intubation, and to avoid or minimize the noxious stimuli related to the intubation, we had chosen to use laryngeal mask airway, which provided an appropriate, safe anesthetic respiratory care in this case.
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PMID:[Case report : respiratory care for anesthesia in a patient with Menkes syndrome and micrognathia]. 1917 25

Skin aging has long been important to human beings and in recent years this field has received tremendous attention by both researchers and the general population. Cutaneous aging includes two distinct phenomena, intrinsic aging and photoaging, and is characterized mainly by the loss of collagen fibers from dermis. Proton pump inhibitors (PPIs) are widely prescribed gastric acid-reducing agents that are usually consumed for long periods in some conditions such as gastroesophageal reflux disease. We suggest that PPIs can accentuate skin aging by two mechanisms. First, through increasing intralysosomal PH, PPIs can suppress transforming growth factor-beta (TGFbeta) processing and consequently decrease its secretion. Second, through inhibiting MNK, a P-type ATPase with steady-state localization at the trans-Golgi network, PPIs can hamper copper transport and consequently curb lysyl oxidase activity.
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PMID:Can proton pump inhibitors accentuate skin aging? 2047 Sep 45

The complication of Menkes disease (MD) and gastroesophageal reflux disease (GERD) is extremely rare. This report describes the very rare case of a one-year-old boy with MD complicated with GERD, and the successful surgical treatment of GERD. We review the literature on this relationship between MD and GERD, and discuss the clinical features of this association. Furthermore, the possible cause of the onset of GERD complicated with MD is explored in this report.
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PMID:Menkes disease with gastroesophageal reflux disease and successful surgical treatment: a case report and literature review. 2071 97

We report anesthetic management of a 6-month-old boy with Menkes disease who underwent three surgeries for vesicoureteral reflux, rupture of the bladder diverticulum, inguinal hernia, and gastroesophageal reflux. Menkes disease is a rare sex-linked disorder of copper absorption and metabolism. Anesthetic management of such patients is rather challenging because of high incidence of seizures, gastroesophageal reflux with the risk of aspiration, hypothermia, airway and vascular complications. In our patient general anesthesia was uneventfully maintained by sevoflurane combined with intravenous remifentanil and fentanyl. We experienced no major complications except some difficulties with intravenous and arterial cannulation. It was especially difficult to establish intravenous and invasive blood pressure lines because of tortuous blood vessels in this patient. We conclude that in patients with Menkes disease scheduled for surgery intravenous access should be established before the induction of general anesthesia. The necessity of invasive blood pressure monitoring should be also carefully considered beforehand.
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PMID:[Anesthetic management of Menkes disease infant with difficult vascular access]. 2096 Sep 3