lesson 7.1 Inborn errors of metabolism

lesson 7.1 Inborn errors of metabolism - L esson 7.1 :...

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Lesson 7.1 : Metabolic Diseases Inborn Errors Of Metabolism (IEM)
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A primer on metabolic disease in the neonate. ..
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What is a metabolic disease? “Inborn errors of metabolism” inborn error : an inherited (i.e. genetic) disorder metabolism : chemical or physical changes undergone by substances in a biological system “any disease originating in our chemical individuality”
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What is a metabolic disease? Garrod’s hypothesis product deficiency substrate excess toxic metabolite A D B C
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What is a metabolic disease? Small molecule disease Carbohydrate Protein Lipid Nucleic Acids Organelle disease Lysosomes Mitochondria Peroxisomes Cytoplasm
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How do metabolic diseases present in the neonate ?? Acute life threatening illness encephalopathy - lethargy, irritability, coma vomiting respiratory distress Seizures, Hypertonia Hepatomegaly (enlarged liver) Hepatic dysfunction / jaundice Odour, Dysmorphism, FTT (failure to thrive), Hiccoughs
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How do you recognize a metabolic disorder ?? Index of suspicion eg “with any full-term infant who has no antecedent maternal fever or PROM (premature rupture of the membranes) and who is sick enough to warrant a blood culture or LP, one should proceed with a few simple lab tests. Simple laboratory tests Glucose, Electrolytes, Gas, Ketones, BUN (blood urea nitrogen), Creatinine Lactate, Ammonia, Bilirubin, LFT Amino acids, Organic acids, Reducing subst.
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Index of suspicion Family History Most IEM’s are recessive - a negative family history is not reassuring! CONSANGUINITY , ethnicity, inbreeding neonatal deaths, fetal losses maternal family history males - X-linked disorders all - mitochondrial DNA is maternally inherited A positive family history may be helpful!
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Index of suspicion History CAN YOU EXPLAIN THE SYMPTOMS? Timing of onset of symptoms after feeds were started? Response to therapies
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Index of suspicion Physical examination General – dysmorphisms (abnormality in shape or size), ODOUR CNS - tone, seizures, tense fontanelle Resp - Kussmaul’s, tachypnea CVS - myocardial dysfunction Abdo - HEPATOMEGALY Skin - jaundice
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Index of suspicion Laboratory ANION GAP METABOLIC ACIDOSIS Normal anion gap metabolic acidosis Respiratory alkalosis Low BUN relative to creatinine Hypoglycemia especially with hepatomegaly non-ketotic
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.. Metabolic diseases are individually rare, but as a group are not uncommon. There presentations in the neonate are often non-specific at the outset. Many are treatable.
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This note was uploaded on 12/28/2011 for the course STEP 1 taught by Professor Dr.aslam during the Fall '11 term at Montgomery College.

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lesson 7.1 Inborn errors of metabolism - L esson 7.1 :...

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