Intravenous branched-chain amino-acid-free solution for the treatment of metabolic decompensation episodes in Spanish pediatric patients with maple syrup urine disease.

Background: Metabolic decompensation episodes (DEs) in Maple Syrup urine disease (MSUD) result in brain accumulation of toxic branched-chain amino acids (BCAAs) and their respective branched-chain α-keto acids that could induce neuroinflammation, disturb brain bioenergetics, and alter glutamate and glutamine synthesis. These episodes require immediate intervention to prevent irreversible neurological damage. Intravenous (IV) administration of BCAA-free solution could represent a powerful alternative for emergency treatment of decompensations. Methods: This pediatric series discusses the management of DEs in MSUD patients with IV BCAA-free solution, as an emergency treatment for DEs or as a prophylactic in cases requiring surgery. Clinical evolution, amino acid profile and adverse effects were evaluated. Results: We evaluated the use of BCAA-free solution in 5 DEs in 5 MSUD pediatric patients, all with significantly elevated plasma leucine levels at admission (699-3296 µmol/L) and in 1 episode of risk of DE due to surgery. Leucine normalization was achieved in all cases with resolution or improvement of clinical symptoms following IV BCAA-free solution. The duration of administration ranged from 3-20 days. Administration of IV BCAA-free solution at the beginning of a DE could reverse depletion of the amino acids that compete with BCAAs for the LAT1 transporter, and the observed depletion of alanine, despite IV alanine supplementation. No related adverse events were observed. Conclusions: Administration of standardized IV BCAA-free solution in emergency settings constitutes an important and safe alternative for the treatment of DEs in MSUD, especially in pediatric patients for whom oral or enteral treatment is not viable.

Rapid Fire: Tumor Lysis Syndrome.

Tumor lysis syndrome (TLS) is a life-threatening oncologic emergency, characterized by a constellation of hyperkalemia, hyperuricemia, hyperphosphatemia, and hypocalcemia. The spectrum ranges from patients who are asymptomatic to those who go into cardiac arrest and die. Prompt recognition and initiation of treatment by emergency physicians are key, especially in the early stages of the syndrome. This case-based review presents an overview of the key points in pathophysiology, diagnosis, and management of TLS that are key to emergency physicians.

Rapid Fire: Hypercalcemia.

Hypercalcemia is commonly encountered in the clinical setting and requires identification by the clinician to avoid disastrous patient outcomes. The 2 most common causes are malignancy and hyperparathyroidism. The underlying cause for hypercalcemia may be readily known at presentation or may require further investigation. After identification, acuity of treatment will depend on severity of calcium level and symptoms. In the emergency setting, intravenous hydration with isotonic fluids is the treatment mainstay. Other commonly used medications to further decrease calcium include bisphosphates, calcitonin, steroids, and (rarely) furosemide. In life-threatening circumstances, dialysis can be implemented.

The impact of continuous renal replacement therapy for metabolic disorders in infants.

BACKGROUND: While Continuous Renal Replacement Therapy (CRRT) is a well established treatment modality for patients with acute kidney insufficiency (AKI), it is now also being used for the management of various illnesses such as acute metabolic disorders presenting with hyperammonemia and elevated leucine levels. Herein, we aimed to describe our experience with CRRT in treatment of acute decompensation of 14 patients with a diagnosis of metabolic disorder who has been admitted to our pediatric intensive care unit (PICU) in the last year. METHODS: Patients who have had life threatening acute metabolic crisis due to various metabolic disorders and were treated with continuous renal replacement therapy (CRRT) were evaluated retrospectively. RESULTS: Between November 2014 and December 2015, 14 patients were found to have received CRRT for various metabolic disorders in the PICU. Ten patients had hyperammonemia and four patients had elevated leucine levels. Nine patients were male and five were female. The age interval was between 2 days and 18 months, with a mean of 5.5 ± 7.4 months. The weight distribution was between 2.5 and 18 kg, with a mean of 7.3 ± 5.6 kg. Eleven patients received continuous veno-venous hemodiafiltration (CVVHDF), and 3 patients with MSUD received continuous veno-venous hemodialysis (CVVHD). All patients have received high throughput hemodialysis and hemofiltration. The dialyzate rate was set to be minimum 4042 ml/h/1.73 m2, and maximum 12,900 ml/h/1.73 m2. Hemofiltration was performed with a replacement rate of 40-76 ml/kg/h. The average CRRT duration was 16.6 ± 15.6 h. CONCLUSIONS: We suggest that CRRT is an efficient method that can be used in hyperammonemia and elevated leucine levels which are metabolic emergencies.

Oncologic Metabolic Emergencies.

Cancer and its therapies may lead to several metabolic emergencies that emergency providers (EPs) should be well-versed in identifying and managing. With prompt recognition and treatment initiation in the emergency department, lives can be saved and quality of life maintained. Most oncologic metabolic emergencies occur in advanced cancer states, but some follow initiation of treatment or may be the presenting syndrome that leads to the cancer diagnosis. This article reviews the 2 most emergent oncologic metabolic diagnoses: tumor lysis syndrome and hypercalcemia of malignancy. A discussion on associated cancers and conditions, pathogenesis and pathophysiology, and management recommendations is included.

Oncologic metabolic emergencies.

Cancer and its therapies may lead to several metabolic emergencies that emergency providers (EPs) should be well-versed in identifying and managing. With prompt recognition and treatment initiation in the emergency department, lives can be saved and quality of life maintained. Most oncologic metabolic emergencies occur in advanced cancer states, but some follow initiation of treatment or may be the presenting syndrome that leads to the cancer diagnosis. This article reviews the 2 most emergent oncologic metabolic diagnoses: tumor lysis syndrome and hypercalcemia of malignancy. A discussion on associated cancers and conditions, pathogenesis and pathophysiology, and management recommendations is included.

Speedy identification of inherited metabolic diseases in emergency and critical care center / 中国小儿急救医学

Acute severe manifestations of inherited metabolic diseases include disorders of the intoxication,disorders with disturbed energy metabolism and disorders of neurotransmission.Therefore,early diagnosis and treatment must be initiated in order to decrease risk of mental injury and damages or acute death.Emergency treatment need speedy diagnosis of inherited metabolic diseases and diagnostic emergency first line laboratory evaluation should cover all differential diagnosies.All of the first line laboratory results are indispensable for planning and conducting the first steps of metabolic emergency treatment and should be available within 30 min.According to the clinical situation and biochemical derangement,secondary special metabolic investigations must be initiated in parallel.The results of all laboratory investigations relevant to the diagnosis of metabolic disorders for which specific emergency therapy exists should be available within 24 h.

Crise hipercalcêmica / Hypercalcemic crisis

Hipercalcemia é um problema clínico relativamente comum. Pode estar associada a um amplo espectro de manifestações clínicas, variando de poucos sintomas se a hipercalcemia for leve e/ou crônica para coma se for severa e/ou aguda. Relataremos o caso de uma paciente de 36 anos trazida ao pronto-socorro, com história de alteração do nível de consciência nas últimas 48 horas. Dentre outras alterações laboratoriais, apresentava cálcio sérico de 17,8 mg por decilitro. Apesar do tratamento, nossa paciente evoluiu ao óbito e o anatomopatológico post-mortem revelou hipercelularidade da medula óssea, compatível com mieloma múltiplo...