1 / 32

Emergency Treatment of Acutely Presenting Inborn Errors of Metabolism

Emergency Treatment of Inborn Errors of Metabolism ((Dr/ Tahany Nabil Mahmoud, MD)

Ahmed391
Download Presentation

Emergency Treatment of Acutely Presenting Inborn Errors of Metabolism

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript


  1. Guidelines for the Emergency Treatment of Inborn Errors of Metabolism Dr/ Tahany Nabil Mahmoud, MD • Consultant of Pediatrics & Neonatology • Toukh Central Hospital, Ministry of Health, Egypt • 2023

  2. Introduction • When To Consider …… IEM • Acute presentations of IEM • Guidelines • Investigations • Treatment • Special considerations • Take Home Message • References

  3. Introduction • Metabolic disorders are a large group of inherited conditions resulting from a block (partial or complete) to a pathway in the body’s metabolism, or defects in the transport of substances.

  4. Introduction • Although IEM are individually rare, collectively they represent an important cause of childhood morbidity and mortality. • Newborn screening will diagnose many but not all metabolic disorders and a newborn may also become unwell before results are available. • Many inborn errors are stable for long period but still have episodes of acute illness.

  5. Introduction • Unfortunately, the early symptoms and signs of acutely presented IEM are non-specific. • Therefore, treatment should start immediately and does not wait for a diagnosis to prevent permanent damage.

  6. When To Consider …… IEM ?

  7. Acute presentations where a metabolic disorder should be considered

  8. Guidelines Initial general management in all patients suspected of presenting acutely with an inherited metabolic disorders

  9. Initial Investigations • Serves as a guide only: so consult the metabolic team with abnormal results • During Interpretation of Investigations: considerthe period of fasting, hydration status, stage of illness and what fluids or other management have already been started • A normal newborn screen, although possibly reassuring, does not rule out the possibility of an IEM. • These findings are Non-specific and may be present in an unwell child without a metabolic disorder • Careful collection and handling of blood, urine and CSF samples is important, but should not delay management of the unwell child

  10. Investigations

  11. Treatment • The initial management should be started immediately but the biochemical results can guide subsequent treatment. • Confirmation of the diagnosis by molecular genetic testing is useful, but results are rarely available during the acute illness. • Early consultation with metabolic team: • As soon as a metabolic disorder is suspected • For children who present with a known metabolic condition.

  12. 1) Stop feeding 2) Supportive therapy : • ABC  Secure air way +Ensure goodhydration & tissue perfusion (Glucose 10% + NaCL 0.9%) • Treat underlying or precipitating illnesseg., sepsis, gastroenteritis • Prevent catabolism: high calories (Dextrose 10%) Check blood sugar hourly. If plasma glucose > 14mmol/L (hyperglycemia) • Generally start IV insulin infusion rather than decrease glucose. • In lactic acidosis Reduce glucose infusion? as insulin can aggravate acidosis

  13. 3) Specific therapy: • Treat hypoglycemia: IV Dextrose containing fluids • Correction of metabolic acidosis:

  14. c) Treatment of hyperammonemia:

  15. c) Treatment of hyperammonemia:

  16. Nutrition • Aim to give 100kcal/kg/day, if possibleas enteral feed(even during hemofiltration). • Parenteral nutrition can be given initially as intralipid (up to 4g/kg/day, 40kcal/kg/day) and 10% glucose IV (40kcal/kg/day at 100ml/kg/day). • It may be difficult to achieve a total of 100kcal/kg/day with IV therapy alone.

  17. Nutrition • Once ammonia and / or pH are normalized and stable start • Protein, 0.5 g/kg/day only • Lipid, 20% of total energy intake • Carbohydrate to provide at least the minimum necessary energy intake) • Patients with inherited metabolic disease should not have protein free nutrition for longer than 48 hours, as this can lead to protein catabolism and exacerbate decompensation • Monitor ammonia and / or blood gas twice daily as protein increased.

  18. 6) Nutrition

  19. Special Considerations • Preoperative: • Always be planned early with the metabolic team • Avoid prolonged fasting with provision of sufficient calories (using IV glucose-containing solutions) to prevent catabolism • Transfer when: A child requiring care beyond the comfort level of the hospital

  20. Take Home Message

  21. Take Home Message • Acute metabolic emergencies in neonates represent a challenge to the medical staff. • Many inborn errors are stable for long periods but still have episodes of acute illness. • IEM that present acutely have non- specific symptoms and the delayed treatment will worsen the outcome. • A normal newborn screen, although possibly reassuring, does not rule out the possibility of an IEM.

  22. Take Home Message • Management is a Multidisciplinary care and should start immediately and does not wait for a final diagnosis. • The gold-standard treatment include; high index of suspicion of IEM, correcting abnormalities, providing calories/reducing catabolism/ providing cofactors and specific measures addressing the disturbed metabolic process . • Don’t forget the basics ( i.e, treatment of precipitating factors e.g., sepsis) to prevent acute decompensation

  23. References • British Inherited Metabolic Disease Group: Undiagnosed hyperammonaemia. Diagnosis and immediate management, 2008. Accessed January 2019 at http://www.bimdg.org.uk/site/index.asp • CAEC Registration Identifier: 1245 Sheffield Children’s (NHS) Foundation Trust;Guideline for the Emergency Treatment of Inborn Errors Mark Sharrard Review date: August 2022. Page 7 of 9 • Jeanmonod R, Asuka E, Jeanmonod D. Inborn Errors of Metabolism. [Updated 2023 Jul 17]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK459183/ • North West & North Wales Paediatric Transport Service. Guidelines for the Management of Neonatal and Paediatric Hyperammonaemia, 2018. Accessed online at http://www.nwts.nhs.uk/_file/iKiUZIP7gM_290986.pdf • SC(NHS)FT Drugs for the Treatment of Inborn Metabolic Diseases 2019 (CAEC Reg ID 807) • SC(NHS)FT Investigation of Suspected Inherited Metabolic Disorders 2019 (CAEC ID 1067) • SC(NHS)FT Unexplained hypoglycaemia – guide to emergency investigations and management (CAEC ID 293) • Saudubray J-M, Baumgartner M, Walter J (Eds.). Inborn Metabolic Diseases Diagnosis and Treatment 6th edition; 2016. • The NEWT Guidelines. October 2016 http://access.newtguidelines.com/C/Carglumic_acid.html

More Related