Metabolic emergencies in the Newborn


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Metabolic emergencies in the Newborn

  1. 1. Neonatal Emergencies: The Missed Ones Dr. Manoj Ghoda Consultant, +91 9824024165
  2. 2. Greetings from AhmedabadNext capital of India 2
  3. 3. NBS and beyond…. ICMR puts estimates of prevalence at 1:1400 to 1:2100 Certain inbreeding communities, small communities and small isolates may have disproportionately high incidence and prevalence of IEM 3
  4. 4. Metabolic Emergencies Why do we miss metabolic emergencies ? What historical and clinical features should alert us about the underlying metabolic cause? What tests are useful once a metabolic disease is suspected? What are the common metabolic emergencies in routine practice? 4
  5. 5. Why are Metabolic emergenciesMissed? Symptoms are non-specific and could be easily confused with routine pediatric problems – Vomiting for gastritis/gastroenteritis. – Altered sensorium to meningitis/viral encephalitis – Altered respiration for respiratory infections or asthma. – Jaundice for hepatitis. 5
  6. 6. Why are Metabolic emergenciesMissed? Some routine illnesses themselves precipitate metabolic emergencies 6
  7. 7. Why are Metabolic emergenciesMissed? Tests are not easily available 7
  8. 8. Why are Metabolic emergenciesMissed? We don’t think about it! Or we think what we want to think !! Only srmat poelpe can raed tihs. I cdnuolt blveiee taht I cluod aulaclty uesdnatnrd waht I was rdanieg. The phaonmneal pweor of the hmuan mnid, aoccdrnig to a rscheearch at Cmabrigde Uinervtisy, it deosnt mttaer in waht oredr the ltteers in a wrod are, the olny iprmoatnt tihng is taht the frist and lsat ltteer be in the rghit pclae. The rset can be a taotl mses and you can sitll raed it wouthit a porbelm. Tihs is bcuseae the……. 8
  9. 9. Why are Metabolic emergenciesMissed? Only srmat poelpe can raed tihs. I cdnuolt blveiee taht I cluod aulaclty uesdnatnrd waht I was rdanieg. The phaonmneal pweor of the hmuan mnid, aoccdrnig to a rscheearch at Cmabrigde Uinervtisy, it deosnt mttaer in waht oredr the ltteers in a wrod are, the olny iprmoatnt tihng is taht the frist and lsat ltteer be in the rghit pclae. The rset can be a taotl mses and you can sitll raed it wouthit a porbelm. Tihs is bcuseae the……. 9
  10. 10. When Should the Alarm Bell Ring?In your practice, if you see a child with … Acute illness following a period of normalcy Intermittent illness for no obvious reason Recurrent unexplained vomiting Failure to thrive Aversion to certain food or the illness starting with particular food 10
  11. 11. When to Suspect an IEM?Or a child with … Rapid deterioration for no obvious reasons Rapidly progressive encephalopathy of obscure origin Lethargy and coma Hypotonia, seizures, especially if hard to control Intractable hiccups 11
  12. 12. When to Suspect an IEM?Or if the child has ... Apnea or respiratory distress Sepsis, particularly with E. Coli Unusual odor Jaundice Dysmorphic features Organomegaly 12
  13. 13. Believe meIt is not difficult…. 13
  14. 14. Case Study A Child with Recurrent Attacks of Asthma
  15. 15. History A 16 month old boy was referred for “recurrent attacks of asthma” He was born out of a 2nd degree consanguineous marriage and was the first child of the parents FTND and birth weight was 2.7 Kg Pregnancy was uneventful There was no notable family history or past medical history
  16. 16. Observations Soon after birth the child had recurrent episodes of “asthma” – Each time he would be given a cocktail of nebulizers and antibiotics with oxygen and the rest and would recover enough to be discharged, only to be admitted again On an average, he had one admission every fortnight He had vomiting and failure to thrive Xrays and blood tests were unremarkable, he had no evidence of pneumonia on xrays He was referred with a suspicion of metabolic cause underlying his illness 16
  17. 17. Observations (Contd.) The child appeared small for his age and his weight was in the 5th centile for his age. He had tachypnea; Chest was clear on clinical examination CNS revealed Hypotonia but otherwise unremarkable Normal CXR Normal CBC, LFT, PT, Blood Sugar and Creatinine Blood Urea 12 mg. High Ammonia 188 mmmol (++) Normal Lactate Metabolic screening by urine was normal Blood Gases on room air showed – pH 7.48 – pO2 112, pCO2 28, HCO3 17
  18. 18. Recapping …We have a hyperventilating patient – He is born out of a consanguineous marriage – He has unexplained vomiting, failure to thrive and hypotonia – He has normal chest on clinical examination and normal chest x-ray – Normal sugar, normal anion gap – Low urea and high ammonia with normal liver functions, normal PT, normal albumin; and normal lactate – Respiratory alkalosis
  19. 19. True or False? If any problem is recurrent; it may be due to underlying metabolic disease Respiratory distress could be a major manifestation of underlying metabolic disease Unexplained vomiting and failure to thrive are two of the common manifestations of metabolic illness. Consanguinity is more likely to produce metabolic disease Asthma or any other respiratory illness usual to childhood would have caused respiratory acidosis and not respiratory alkalosis
  20. 20. Some common metabolic disordersleading to emergency in Newborn Galactosemia, Tyrosinemia Organic Acidopathies Urea Cycle Disorders Maple Syrup Urine Disease Glycogen Storage Disorders Nonketotic Hyperglycinemia Cystic Fibrosis 20
  21. 21. Initial Screening Tests CBC – Neutropenia is frequent in some Organic Acidemias – Megaloblastic Anemia in MMA – Adler–Reilly bodies in storage disorders. Glycogen granule in GSD Electrolytes, ABG to evaluate for acidosis and anion gap Glucose, LFT and RFT Ammonia, Lactate, Pyruvate Galactosemia Screening tests Uric Acid
  22. 22. Initial Screening Tests (Contd.) Urinalysis – Urinary pH – Reducing substances – Ketones  The presence of ketones is unusual even in sick neonates and suggests an Organic Acidemia. High false positive rate – Absent ketones in hypoglycemia may suggest Fatty Acid Disorders DNPH test for MSUD
  23. 23. Other Screening Tests Urine organic acids by GC/MS while the patient is ill Plasma amino acids MS/MS, while the patient is ill Total Carnitine, Free Carnitine and Acylcarnitine profile
  24. 24. Back to our Case Analysis based on clinical features and basic investigations
  25. 25. Respiratory Alkalosis Psychogenic Hyperventilation Hypoxia Hyperammonemia Excessive Mechanical Ventilation CNS Causes – Stroke, Subarachnoid Hemorrhage, Meningitis Drugs – Doxapram, Aspirin, Caffeine and Coffee Abuse Fever, which stimulates the respiratory centre in the brainstem Pregnancy
  26. 26. Respiratory Alkalosis (Contd.) Hyperventilation secondary to cerebral edema is a common early finding in hyperammonemic attacks that results in respiratory alkalosis. Hypoventilation and respiratory arrest follow as pressure increases on the brain stem
  27. 27. Hyperammonemia Liver Disorders Urea Cycle Disorders Organic Acidemia Fatty Acid Oxidation Disorders Energy Metabolism Disorders 27
  28. 28. Could this Patient have Urea Cycle Disorder? 28
  29. 29. Urea Cycle Disorders 29
  30. 30. Lab Diagnosis Plasma Ammonia Plasma Amino Acids – Low/Absent Citrulline  Proximal Defects – OTC/CPS1/NAGS – High Citrulline  Distal Defects – Argininosuccinate - ASL – High Arginine – ARG – High Ornithine – ORNT1 – High GLN, ASN, ALA  All UCDs – Ammonia Sump Urinary Orotate – High in all UCDs except CPS1 and NAGS therefore used to differentiate these from OTC 30
  31. 31. Tandem Mass Spectrometry (MS/MS) High Citrulline High Arginosuccinic Acid Low Arginine 31
  32. 32. Severe Illness Usually normal the first 24 hours Symptoms of Hyperammonemia within 1-3 days include: – Feeding intolerance – Vomiting – Lethargy – Irritability – Respiratory Distress (Hyperventilation) – Seizures – Coma 32
  33. 33. Mild Disease Mild/Partial Defects/Female Carriers of OTC – hyperammonaemia triggered by illness or stress First episode can occur all the way into adulthood LOA, cyclical vomiting, lethargy, psychosis Encephalopathic (slow-wave) EEG pattern Brain atrophy on MRI after repeated episodes 33
  34. 34. So... My humble request is... Think metabolic..... When all is not well 34
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  36. 36. Thank youDr Manoj K Ghoda MD, MRCPConsultant GastroenterologistSpecial interest in Neonatal and Pediatric Liver andMetabolic 9824024165 36