Approach to IEM.docx
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1. Approach to investigating inborn errors of metabolism (IEMs) involves considering the age of onset, family history of consanguinity, timing of symptoms, and examination findings. 2. Key details from the history and examination that suggest an IEM include neonatal onset, symptoms after introducing complementary feeds or prolonged fasting, consanguinity in the family, and physical findings like doll facies or hepatomegaly. 3. Initial investigations should include critical blood samples during hypoglycemia to check for abnormalities in glucose, fatty acids, ketones, lactate, uric acid, ammonia, and other markers, along with urine and imaging tests, to identify the specific disorder and guide treatment.
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This document provides an overview of inborn errors of metabolism (IEM) in infants. It discusses the objectives of understanding IEM, raising clinical suspicion, and making initial diagnoses. Key points include that individually IEMs are rare but collectively common, with varied presentations from mild to severe. The document outlines common screening tests and specific diagnostic tests. Treatment options discussed include dietary restrictions or supplements, vitamins, dialysis, enzyme replacement therapy, gene therapy, and transplantation. Clinical suspicion of IEM is raised in infants with unexplained illness, poor response to treatment, metabolic acidosis, or developmental regression. Initial critical interventions discussed are laboratory workup and measures to eliminate toxins.
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- 1. Approachto IEM History • Age of onset Neonatal period—Galactosemia,organicacademia Afterintroductionof complementaryfeeds— Disordersof fructose metabolism • Consanguinity—suggeststhe possibilityof metabolicdisorder(MostIEMsare autosomal recessive) • Timingof symptoms - EarlymorningafterprolongedfastingusuallyoccursinGSD, FAO Well afterbirthandsymptomsafterthe introductionof breastfeedsusuallysuggestanIEM • Prolongationof physiological jaundice,Escherichiacoli sepsismaysuggestgalactosemia • Symptomssuggestive of sepsislikevomiting,lethargy,failure tothrive,andpoorfeedingoften occurs inmetabolicdisorders(IEMmimickssepsis; • Historyof previousrecurrentabortions,earlyneonatalandprevioussiblingdeaths,familyhistory of developmental delayandseizuresstronglysuggestthe likelihoodof ametabolicdisorder Examination • Doll faciescanoccur in Glycogenstorage disorders • Cataract are commonlyseeningalactosemia • Icteruscan occur in galactosemiaandotherIEMwithliverdysfunction • Isolatedhepatomegalyoccursintype 1 Glycogenstorage disorder(VonGierke’sdisease) • Hepatosplenomegalycanoccurin galactosemia,type 3,and4 GSD Investigations • Critical bloodsample tobe takenatthe time of hypoglycemia(itincludesglucose,freefattyacids, ketones,lactate,uricacid,ammonia,insulin,cortisol,growthhormone) • Serumammonia • Arterial bloodgasforpH • Serumlactate • Blood/urinary ketones(nonketotichypoglycemiacanoccur infatty acidoxidationdefects;ketotic hypoglycemiacanoccur in GSD type 1 andvariouscarbohydrate metabolicdisorders)
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