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February 4th, 2017, 10:52 AM
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| Approach to IEM AIIMS Protocol
Is there anybody who will provide important notes on Approach to Inborn Errors of Metabolism Presenting in the Neonate from AIIMS? My sister wants important notes on Approach to Inborn Errors of Metabolism Presenting in the Neonate topic. So please give link from where I will download. As you are looking for important notes on Approach to Inborn Errors of Metabolism Presenting in the Neonate topic from AIIMS, so here I am providing important notes: “Approach to Inborn Errors of Metabolism Presenting in the Neonate” Suvasini Sharma, Pradeep Kumar, Ramesh Agarwal, Madhulika Kabra, Ashok Deorari, Vinod Paul Department of Pediatrics All India Institute of Medical Sciences Ansari Nagar, New Delhi –110029 Clinical Presentation: Deterioration after a period of apparent normalcy Family history of unexplained neonatal deaths Persistent vomiting Parental consanguinity Peculiar odor (urine, cerumen) Severe metabolic acidosis Rapidly progressive encephalopathy and seizures of unexplained cause Acute fatty liver or HELLP (hemolysis, elevated liver enzymes & low platelet counts) during pregnancy: seen in women carrying fetuses with long-chain-3- hydroxyacyl-coenzyme dehydrogenase deficiency (LCHADD). Investigations First line investigations (metabolic screen): Complete blood count: (neutropenia and thrombocytopenia seen in propionic and methylmalonic academia) Blood glucose Liver function tests Urine ketones Serum uric acid (low in molybdenum cofactor deficiency). Arterial blood gases and electrolytes Arterial blood lactate (Normal values: 0.5-1.6 mmol/L) Urine reducing substances. Plasma ammonia (Normal values in newborn: 90-150 µg/dl or 64-107 µmol/L) Second line investigations (ancillary and confirmatory tests) Gas chromatography mass spectrometry (GCMS) of urine- for diagnosis of organic acidemias. Plasma amino acids and acyl carnitine profile: by tandem mass spectrometry (TMS)- for diagnosis of organic acidemias, urea cycle defects, aminoacidopathies and fatty acid oxidation defects. High performance liquid chromatography (HPLC): for quantitative analysis of amino acids in blood and urine; required for diagnosis of organic acidemias and aminoacidopathies. Lactate/pyruvate ratio- in cases with elevated lactate. Urinary orotic acid- in cases with hyperammonemia for classification of urea cycle defect. Acute management of newborn with suspected organic acidemia11 The patient is kept nil per orally and intravenous glucose is provided. Treat acidosis: Sodium bicarbonate 0.35-0.5mEq/kg/hr (max 1-2mEq/kg/hr) Start Vitamin B12 1-2 mg/day I/M (useful in B12 responsive forms of methylmalonic acidemias) If hyperammonemia is present, treat as explained above. Carnitine: 100 mg/kg/day IV or oral. Start Biotin 10 mg/day orally. Supportive care: hydration, treatment of sepsis, seizures, ventilation. Start Thiamine 300 mg/day (useful in thiamine-responsive variants of MSUD). To get complete notes, download the attachment.............. Address for correspondence Dr Ashok K Deorari Professor Department of Pediatrics All India Institute of Medical Sciences Ansari Nagar, New Delhi 110029 Email: ashokdeorari_56@hotmail.com Last edited by Neelurk; April 3rd, 2020 at 04:30 PM. |
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