HA Convention 2016 Master course How to Handle Abnormal Newborn Metabolic Screening Results Causes, Management and Follow up
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1 HA Convention 2016 Master course How to Handle Abnormal Newborn Metabolic Screening Results Causes, Management and Follow up Dr. Josephine Chong Clinical Professional Consultant Centre of Inborn Errors of Metabolism Department of O&G and Department of Paediatrics
2 How to Handle Abnormal Newborn Metabolic Screening Results Causes, Management and Follow up Inborn errors of metabolism (IEM) a class of genetic disorders with defects of metabolism which are mostly due to single gene defects resulting in defective function of particular enzymes that are essential for conversion of substrates into products. A Enzyme a B Enzyme b C Enzyme c IEM disorders cause inadequate essential metabolites or accumulation of toxic intermediary metabolites for the body
3 How to Handle Abnormal Newborn Metabolic Screening Results Causes, Management and Follow up Inborn errors of metabolism (IEM) a class of genetic disorders with defects of metabolism which are mostly due to single gene defects resulting in defective function of particular enzymes that are essential for conversion of substrates into products. A Enzyme a B X Enzyme b C Enzyme c IEM disorders cause inadequate essential metabolites or accumulation of toxic intermediary metabolites for the body
4 How to Handle Abnormal Newborn Metabolic Screening Results Causes, Management and Follow up Need to know all IEM disorders?? NO Not all IEM disorders are included in a newborn metabolic screening programme
5 Newborn Metabolic Screening Results Normal > 98% newborn Uncertain Abnormal <1% newborn
6 What do you need to know when handling Abnormal Newborn Metabolic Screening Results Abnormal/Uncertain result Know the screening panel
7 Know the Screening Panel 1. What is the tested analytes
8 Know the Screening Panel Amino acid Alanine Citrulline Leucine/isoleucine Methionine Ornithine Valine Arginine Glycine Phenylalanine Proline Tyrosine Succinylacetone* Acylcarnitines C0 C6 C12 C16:1 C2 C6DC C12:1 C16:1OH C3 C8 C14 C18 C3DC/C4OH C8:1 C14:1 C18:1 C4 C10 C14:2 C18:2 C5 C10:1 C14OH C18OH C5:1 C10:2 C16
9 Know the Screening Panel 1. What is the tested analytes 2. What are the IEM disorders being screened Non-urgent Urgent
10 Know the Screening Panel Inborn errors of metabolism categories Amino acid disorders Organic acid disorders Fatty acid oxidation disorders Phenylketonuria, Maple syrup urine disease, Citrullinemia type 1, Argininosuccinic aciduria, Homocystinuria, Tyrosinemia type 1, Arginase deficiency, Defects of biopterin cofactor biosynthesis and regeneration, Citrullinemia type 2 Propionic acidemia, Isovaleric acidemia, Glutaric acidemia type 1, Methylmalonic aciduria, Betaketothiolase deficiency, Multiple carboxylase deficiency Carnitine uptake defect, Medium-chain acyl-coa dehydrogenase deficiency, Very long-chain acyl-coa dehydrogenase deficiency, Carnitine Acylcarnitine translocase deficiency, Carnitine palmitoyltransferase I /II deficiency
11 Know the Screening Panel Inborn errors of metabolism categories Amino acid disorders Organic acid disorders Fatty acid oxidation disorders Phenylketonuria, Maple syrup urine disease, Citrullinemia type 1, Argininosuccinic aciduria, Homocystinuria, Tyrosinemia type 1, Arginase deficiency, Defects of biopterin cofactor biosynthesis and regeneration, Citrullinemia type 2 Propionic acidemia, Isovaleric acidemia, Glutaric acidemia type 1, Methylmalonic aciduria, Betaketothiolase deficiency, Multiple carboxylase deficiency Carnitine uptake defect, Medium-chain acyl-coa dehydrogenase deficiency, Very long-chain acyl-coa dehydrogenase deficiency, Carnitine Acylcarnitine translocase deficiency, Carnitine palmitoyltransferase I /II deficiency
12 Know the Screening Panel Inborn errors of metabolism categories Amino acid disorders Organic acid disorders Fatty acid oxidation disorders Phenylketonuria, Maple syrup urine disease, Citrullinemia type 1, Argininosuccinic aciduria, Homocystinuria, Tyrosinemia type 1, Arginase deficiency, Defects of biopterin cofactor biosynthesis and regeneration, Citrullinemia type 2 Propionic acidemia, Isovaleric acidemia, Glutaric acidemia type 1, Methylmalonic aciduria, Betaketothiolase deficiency, Multiple carboxylase deficiency Carnitine uptake defect, Medium-chain acyl-coa dehydrogenase deficiency, Very long-chain acyl-coa dehydrogenase deficiency, Carnitine Acylcarnitine translocase deficiency, Carnitine palmitoyltransferase I /II deficiency
13 Know the Screening Panel 1. What is the tested analytes 2. What are the IEM disorders being screened 3. What are the factors affecting the levels of tested analytes 1. Blood spots quality 2. Timing of collection 3. Baby s condition, feeding condition, liver function, medication One big blood drop per circle, no layering Back of DBS card: Complete penetration of blood drop
14 Know the Screening Panel 1. What is the tested analytes 2. What are the IEM disorders being screened 3. What are the factors affecting the levels of tested analytes 4. What are the limitations of the screening test 1. The very mild variant of IEM disorders may not be picked up 2. False negative (e.g. citrin deficiency)
15 What do you need to know when handling Abnormal Newborn Metabolic Screening Results Abnormal/Uncertain result Know the screening panel Know the available test and treatment
16 Know the available test and treatment Testing: loading testing, confirmatory testing (biochemical, genetics testing) Dietary modification: special milk formula, tailored made TPN Medications: e.g. carnitine supplement, cofactor supplement (e.g.biotin), anti-hyperammonaemia medication etc Treatment for acute decompensation: NICU support, availability of haemodialysis
17 Know the available test and treatment ACMG ACT sheet ACMG algorithm
18 What do you need to know when handling Abnormal Newborn Metabolic Screening Results Abnormal/Uncertain result Know the screening panel Know the available test and treatment Know the parent response
19 Know the parent response Anxious about the result Mis-understand the condition Worried about acute decompensation in all cases Informed the parents one day before clinic available if it is non-urgent
20 CASE EXAMPLE FOR ILLUSTRATION
21 CASE 1 Term, BW 3Kg, Male, exclusive breast feeding, discharged home on day 2 Day 2 screening result available on Friday evening: Free Carnitine: C0 5.6 (cut-off >6.0) Acylcarnitine: normal pattern Amino acid: normal pattern DDX: Carnitine Uptake Defect (CUD)
22 CASE 1 Suspected CUD Abnormal/Uncertain result CUD Know the screening panel Know the available test and treatment Know the parent response Urgent/ Nonurgent Confirmation testing Worry about decompensation Carnitine Supplement Call and inform parent the screening result immediately and assess the patient s condition, ask them to come back to NBS clinic on Monday or come back when they have suspicious of clinical deterioration
23 CASE 1 - Progress Baby was stable and feeding well Repeated DBS: C0 >8.0 Acylcarnitine normal profile Mother carnitine was normal Discharged home
24 CASE 2 Term, BW 3Kg, Male, discharged home on day 2 Day 2 screening result available on Friday evening: Acylcarnitine: normal pattern Amino acid: raised Phenylalanine >1000, all other aminoacids normal DDX: Phenylketonuria
25 Phenylalanine metabolism Dietary protein Cofactor: BH4 Phenylalanine Tyrosine Enzyme: Phenylalanine hydroxylase Phenylpyruvic acid DOPA Melanin Thyroxine Catecholamine
26 CASE 2 - PKU Abnormal/Uncertain result PKU Know the screening panel Know the available test and treatment Know the parent response Non-Urgent - Confirmation testing - BH4 loading test Worry about decompensation Special milk formula available - PKU1 Call and inform parent the screening result on Sunday and ask them to come back to NBS clinic on Monday
27 CASE 2 - PKU High phenylalanine level on biochemical testing -> Dx: Phenylketonuria (PKU)
28 Case 2 - Management Confirmatory testing : PAH gene detected mutation Parents: carrier BH4 loading test: negative Treatment: Low protein (low phenylalanine diet), PKU formula
29 CASE 3 Term, BW 3Kg, Male, discharged home on day 2 Day 2 screening result available on Friday evening: Acylcarnitine: elevated C3 Amino acid: normal pattern DDX: Propionic acidemia (PA); Methylmalonic acidemias (MMA) including defects in B12 synthesis and transport; maternal severe B12 deficiency.
30 CASE 3 elevated C3 Abnormal/Uncertain result Elevated C3 Know the screening panel Know the available test and treatment Know the parent response Urgent - Medical emergency Biochemical testing: hyperammonaemia, metabolic acidosis NICU Haemodialysis Medications: carnitine, antihyperammonaemia drug (ammonual) Let them know the suspected condition requires immediate medical attention Call and inform parent the screening result immediately when result available Ask them to bring baby back for admission asap (That night!!)
31 Take Home Message Management of NBS result Abnormal/Uncertain NBS result Know the screening panel Know the available test and treatment Know the parent response Work closely with the NBS lab, neonatologist, and chemical pathologist
32 What do you need to know when handling Abnormal Newborn Metabolic Screening Results END OF PRESENTATION THANK YOU
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