الفهرس 
Anesthetic Considerations in PorphyriaOnly 14 pages are availabe for public view
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Abstract
Inherited metabolic diseases, while individually rare conditions, contribute significantly to pediatric morbidity and mortality. Anesthetists may encounter patients with inherited metabolic diseases presenting for both emergency and elective surgery. The management of these patients is often challenging due to the multisystemic manifestations of many IMDs. Catastrophic metabolic decompensation may occur in the perioperative period and a multidisciplinary approach is essential to ensure safe management of these patients.
Anesthesia of hepatic porphyric patients can trigger potentially serious complications even though documented accidents are rare. Although most anesthetic agents have been used in cases of latent Porphyria (except highly contra-indicated barbiturates), caution is necessary. If an acute attack is suspected, only agents known to be safe in this context should be used. This rarely occurring disorder must not be underestimated. Any suspicion must lead to diagnosis assessment and possibly to research into the family history.
Inherited defects in glycogen metabolism prevent the mobilization of glucose from glycogen and typically cause the accumulation of glycogen within tissues such as the liver or muscles. The management of the GSD involves maintaining an adequate blood glucose level and provision of alternate energy sources.
Management of anesthesia in patients with disorders of amino acid metabolism is directed toward maintenance of intravascular fluid volume and acid-base homeostasis. Use of anesthetics that could evoke seizures may be questionable in view of the likely presence of seizure disorders in these patients.
Patients presenting with MPS are often difficult to manage peri-operatively and though new treatments are providing hope, many challenges remain. Understanding the pathophysiology of this group of diseases increases awareness of the potential risks of anesthesia and surgery. Ideally, children with MPS should be managed by anesthesiologists familiar with the disease process to minimize complications and reduce morbidity and mortality.
Lesch-Nyhan syndrome is a genetically determined disorder of purine metabolism that occurs exclusively in males. Management of anesthesia is influenced by co-existing renal dysfunction.
Ornithine transcarbamylase deficiency (OTCD) is the most common inborn error of the urea cycle. Several specific factors require care during anesthesia in patients with this condition to avoid metabolic decompensation with acute hyperammonemia and encephalopathy.