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Inborn Errors of Metabolism and Newborns

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Neonatology

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Abstract

Inborn errors of metabolism are a large group of genetic diseases due to disruption of biochemical reactions. Advances in the understanding of the molecular and biochemical bases of several of these disorders have led to major progress in the diagnosis and treatment. Although individually rare, inborn errors of metabolism are relatively frequent with a collective incidence of up to 1 in 400 births. For several disorders, the patient’s outcome in terms of mortality and morbidity is dependent upon a prompt diagnosis and treatment. Unfortunately, neonatal presentations are generally nonspecific and usually include poor feeding, vomiting, breathing difficulties, lethargy, hypotonia, hypothermia, and seizures. Therefore, several patients are often undiagnosed or misdiagnosed. Nevertheless, clues from the history, clinical presentation, or basic biochemical studies should raise the suspicion of a metabolic disease. With a relatively small number of laboratory tests, the neonatologist can initiate appropriate diagnostic investigations and start appropriate therapies. An accurate diagnosis is of primary importance also for parental counseling. The implementation of expanded newborn screening in several countries is allowing detection of a growing number of inborn errors of metabolism in their pre- or early symptomatic phases and is changing their management and treatment which will likely modify also their natural history.

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References

  • Acuna-Hidalgo R, Schanze D, Kariminejad A, Nordgren A, Kariminejad MH, Conner P, Grigelioniene G et al (2014) Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the l-serine biosynthesis pathway. Am J Hum Genet 95:285–293

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Akman CI, Yu J, Alter A, Engelstad K, De Vivo DC (2016) Diagnosing glucose transporter 1 deficiency at initial presentation facilitates early treatment. J Pediatr 171:220–226

    Google Scholar 

  • Albers S, Marsden D, Quackenbush E, Stark AR, Levy HL, Irons M (2001) Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry. Pediatrics 107, E103

    Article  CAS  PubMed  Google Scholar 

  • Alfardan J, Mohsen AW, Copeland S, Ellison J, Keppen-Davis L, Rohrbach M, Powell BR et al (2010) Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening. Mol Genet Metab 100:333–338

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Al-Hussaini A, Faqeih E, El-Hattab AW, Alfadhel M, Asery A, Alsaleem B, Bakhsh E et al (2014) Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure. J Pediatr 164:553–559, e551–552

    Article  CAS  PubMed  Google Scholar 

  • Angle B, Tint GS, Yacoub OA, Clark AL (1998) Atypical case of Smith-Lemli-Opitz syndrome: implications for diagnosis. Am J Med Genet 80:322–326

    Article  CAS  PubMed  Google Scholar 

  • Applegarth DA, Toone JR (2001) Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis. Mol Genet Metab 74:139–146

    Article  CAS  PubMed  Google Scholar 

  • Arnold GL, Salazar D, Neidich JA, Suwannarat P, Graham BH, Lichter-Konecki U, Bosch AM et al (2012) Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening. Mol Genet Metab 106:439–441

    Article  CAS  PubMed  Google Scholar 

  • Arora N, Stumper O, Wright J, Kelly DA, McKiernan PJ (2006) Cardiomyopathy in tyrosinaemia type I is common but usually benign. J Inherit Metab Dis 29:54–57

    Article  CAS  PubMed  Google Scholar 

  • Baumgartner MR, Verhoeven NM, Jakobs C, Roels F, Espeel M, Martinez M, Rabier D et al (1998) Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann disease. Neurology 51:1427–1432

    Article  CAS  PubMed  Google Scholar 

  • Bejsovec M, Kulenda Z, Ponca E (1967) Familial intrauterine convulsions in pyridoxine dependency. Arch Dis Child 42:201–207

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Bellini C, Donarini G, Paladini D, Calevo MG, Bellini T, Ramenghi LA, Hennekam RC (2015) Etiology of non-immune hydrops fetalis: an update. Am J Med Genet A 167A:1082–1088

    Article  PubMed  Google Scholar 

  • Boemer F, Deberg M, Schoos R, Caberg JH, Gaillez S, Dugauquier C, Delbecque K et al (2016) Diagnostic pitfall in antenatal manifestations of CPT II deficiency. Clin Genet 89:193–197

    Article  CAS  PubMed  Google Scholar 

  • Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ et al (2016) Peroxisome biogenesis disorders in the Zellweger spectrum: an overview of current diagnosis, clinical manifestations, and treatment guidelines. Mol Genet Metab 117:313–321

    Google Scholar 

  • Brun L, Ngu LH, Keng WT, Ch’ng GS, Choy YS, Hwu WL, Lee WT et al (2010) Clinical and biochemical features of aromatic l-amino acid decarboxylase deficiency. Neurology 75:64–71

    Article  CAS  PubMed  Google Scholar 

  • Chace DH, Kalas TA, Naylor EW (2002) The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism. Annu Rev Genomics Hum Genet 3:17–45

    Article  CAS  PubMed  Google Scholar 

  • Chiong MA, Sim KG, Carpenter K, Rhead W, Ho G, Olsen RK, Christodoulou J (2007) Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency. Mol Genet Metab 92:109–114

    Article  CAS  PubMed  Google Scholar 

  • Clayton PT, Eaton S, Aynsley-Green A, Edginton M, Hussain K, Krywawych S, Datta V et al (2001) Hyperinsulinism in short-chain l-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. J Clin Invest 108:457–465

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Cormier-Daire V, Chretien D, Rustin P, Rotig A, Dubuisson C, Jacquemin E, Hadchouel M et al (1997) Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation. J Pediatr 130:817–822

    Article  CAS  PubMed  Google Scholar 

  • Cox PM, Brueton LA, Murphy KW, Worthington VC, Bjelogrlic P, Lazda EJ, Sabire NJ et al (1999) Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis. Am J Med Genet 86:187–193

    Article  CAS  PubMed  Google Scholar 

  • Daikha-Dahmane F, Dommergues M, Narcy F, Gubler MC, Dumez Y, Gauthier E, Nordmann Y et al (2001) Congenital erythropoietic porphyria: prenatal diagnosis and autopsy findings in two sibling fetuses. Pediatr Dev Pathol 4:180–184

    Article  CAS  PubMed  Google Scholar 

  • de Koning TJ, Klomp LW, van Oppen AC, Beemer FA, Dorland L, van den Berg I, Berger R (2004) Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency. Lancet 364:2221–2222

    Article  PubMed  Google Scholar 

  • Derks TG, van Spronsen FJ, Rake JP, van der Hilst CS, Span MM, Smit GP (2007) Safe and unsafe duration of fasting for children with MCAD deficiency. Eur J Pediatr 166:5–11

    Article  PubMed  Google Scholar 

  • Dursun A, Gucer S, Ebberink MS, Yigit S, Wanders RJ, Waterham HR (2009) Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails. J Inherit Metab Dis 32(Suppl 1):S345–S348

    Article  PubMed  Google Scholar 

  • Enns GM, Berry SA, Berry GT, Rhead WJ, Brusilow SW, Hamosh A (2007) Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. N Engl J Med 356:2282–2292

    Article  CAS  PubMed  Google Scholar 

  • Fayon M, Lamireau T, Bioulac-Sage P, Letellier T, Moretto B, Parrot-Roulaud F, Coquet M et al (1992) Fatal neonatal liver failure and mitochondrial cytopathy: an observation with antenatal ascites. Gastroenterology 103:1332–1335

    Article  CAS  PubMed  Google Scholar 

  • Feillet F, Merten M, Battaglia-Hsu SF, Rabier D, Kobayashi K, Straczek J, Brivet M et al (2008) Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency. J Hepatol 48:517–522

    Article  PubMed  Google Scholar 

  • Flanagan SE, Xie W, Caswell R, Damhuis A, Vianey-Saban C, Akcay T, Darendeliler F et al (2013) Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation. Am J Hum Genet 92:131–136

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Freeze HH, Chong JX, Bamshad MJ, Ng BG (2014) Solving glycosylation disorders: fundamental approaches reveal complicated pathways. Am J Hum Genet 94:161–175

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Ganetzky R, Izumi K, Edmondson A, Muraresku CC, Zackai E, Deardorff M, Ganesh J (2015) Fetal akinesia deformation sequence due to a congenital disorder of glycosylation. Am J Med Genet A 167A:2411–2417

    Article  PubMed  Google Scholar 

  • Garver WS, Francis GA, Jelinek D, Shepherd G, Flynn J, Castro G, Walsh Vockley C et al (2007) The National Niemann-Pick C1 disease database: report of clinical features and health problems. Am J Med Genet A 143A:1204–1211

    Article  PubMed  Google Scholar 

  • Gimovsky AC, Luzi P, Berghella V (2015) Lysosomal storage disease as an etiology of nonimmune hydrops. Am J Obstet Gynecol 212:281–290

    Article  PubMed  Google Scholar 

  • Haberle J, Gorg B, Rutsch F, Schmidt E, Toutain A, Benoist JF, Gelot A et al (2005) Congenital glutamine deficiency with glutamine synthetase mutations. N Engl J Med 353:1926–1933

    Article  PubMed  Google Scholar 

  • Haberle J, Shahbeck N, Ibrahim K, Hoffmann GF, Ben-Omran T (2011) Natural course of glutamine synthetase deficiency in a 3 year old patient. Mol Genet Metab 103:89–91

    Article  PubMed  Google Scholar 

  • Haberle J, Shahbeck N, Ibrahim K, Schmitt B, Scheer I, O'Gorman R, Chaudhry FA et al (2012) Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance. Orphanet J Rare Dis 7:48

    Article  PubMed  PubMed Central  Google Scholar 

  • Herman GE, Kratz L (2012) Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome. Am J Med Genet C Semin Med Genet 160C:301–321

    Article  PubMed  Google Scholar 

  • Hinton CF, Ojodu JA, Fernhoff PM, Rasmussen SA, Scanlon KS, Hannon WH (2010) Maternal and neonatal vitamin B12 deficiency detected through expanded newborn screening – United States, 2003–2007. J Pediatr 157:162–163

    Article  PubMed  Google Scholar 

  • Ho G, Yonezawa A, Masuda S, Inui K, Sim KG, Carpenter K, Olsen RK et al (2011) Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B. Hum Mutat 32:E1976–E1984

    Article  CAS  PubMed  Google Scholar 

  • Hoover-Fong JE, Shah S, Van Hove JL, Applegarth D, Toone J, Hamosh A (2004) Natural history of nonketotic hyperglycinemia in 65 patients. Neurology 63:1847–1853

    Article  CAS  PubMed  Google Scholar 

  • Hsu BY, Kelly A, Thornton PS, Greenberg CR, Dilling LA, Stanley CA (2001) Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome. J Pediatr 138:383–389

    Article  CAS  PubMed  Google Scholar 

  • Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, van der Knaap MS (2004) Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. Am J Hum Genet 74:745–751

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Ibdah JA, Bennett MJ, Rinaldo P, Zhao Y, Gibson B, Sims HF, Strauss AW (1999) A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. N Engl J Med 340:1723–1731

    Article  CAS  PubMed  Google Scholar 

  • Kapoor RR, James C, Hussain K (2009) Hyperinsulinism in developmental syndromes. Endocr Dev 14:95–113

    CAS  PubMed  Google Scholar 

  • Kelly DA, Portmann B, Mowat AP, Sherlock S, Lake BD (1993) Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease. J Pediatr 123:242–247

    Article  CAS  PubMed  Google Scholar 

  • Landau YE, Lichter-Konecki U, Levy HL (2014) Genomics in newborn screening. J Pediatr 164:14–19

    Article  PubMed  Google Scholar 

  • Leijser LM, de Vries LS, Rutherford MA, Manzur AY, Groenendaal F, de Koning TJ, van der Heide-Jalving M et al (2007) Cranial ultrasound in metabolic disorders presenting in the neonatal period: characteristic features and comparison with MR imaging. AJNR Am J Neuroradiol 28:1223–1231

    Article  CAS  PubMed  Google Scholar 

  • Lenke RR, Levy HL (1980) Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies. N Engl J Med 303:1202–1208

    Article  CAS  PubMed  Google Scholar 

  • Leticee N, Bessieres-Grattagliano B, Dupre T, Vuillaumier-Barrot S, de Lonlay P, Razavi F, El Khartoufi N et al (2010) Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis? Mol Genet Metab 101:253–257

    Article  CAS  PubMed  Google Scholar 

  • Magoulas PL, El-Hattab AW (2012) Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management. Orphanet J Rare Dis 7:68

    Article  PubMed  PubMed Central  Google Scholar 

  • Matern D, Rinaldo P (2015) Medium-chain acyl-coenzyme A dehydrogenase deficiency. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH et al eds. GeneReviews(R). Seattle University of Washington , Seattle

    Google Scholar 

  • Mignot C, Gelot A, Bessieres B, Daffos F, Voyer M, Menez F, Fallet Bianco C et al (2003) Perinatal-lethal Gaucher disease. Am J Med Genet A 120A:338–344

    Article  CAS  PubMed  Google Scholar 

  • Mills PB, Surtees RA, Champion MP, Beesley CE, Dalton N, Scambler PJ, Heales SJ et al (2005) Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase. Hum Mol Genet 14:1077–1086

    Article  CAS  PubMed  Google Scholar 

  • Mindikoglu AL, King D, Magder LS, Ozolek JA, Mazariegos GV, Shneider BL (2011) Valproic acid-associated acute liver failure in children: case report and analysis of liver transplantation outcomes in the United States. J Pediatr 158:802–807

    Article  PubMed  Google Scholar 

  • Mitchell G, Saudubray JM, Gubler MC, Habib R, Ogier H, Frezal J, Boue J (1984) Congenital anomalies in glutaric aciduria type 2. J Pediatr 104:961–962

    Article  CAS  PubMed  Google Scholar 

  • National Institutes of Health Consensus Development Panel (2001) National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16–18, 2000. Pediatrics 108:972–982

    Google Scholar 

  • North KN, Hoppel CL, De Girolami U, Kozakewich HP, Korson MS (1995) Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys. J Pediatr 127:414–420

    Article  CAS  PubMed  Google Scholar 

  • Oey NA, den Boer ME, Wijburg FA, Vekemans M, Auge J, Steiner C, Wanders RJ et al (2005) Long-chain fatty acid oxidation during early human development. Pediatr Res 57:755–759

    Article  CAS  PubMed  Google Scholar 

  • Pena L, Angle B, Burton B, Charrow J (2012) Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center’s experience. Genet Med 14:342–347

    Article  CAS  PubMed  Google Scholar 

  • Poretti A, Blaser SI, Lequin MH, Fatemi A, Meoded A, Northington FJ, Boltshauser E et al (2013) Neonatal neuroimaging findings in inborn errors of metabolism. J Magn Reson Imaging 37:294–312

    Article  PubMed  Google Scholar 

  • Profitlich LE, Kirmse B, Wasserstein MP, Diaz GA, Srivastava S (2009) High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria. Mol Genet Metab 98:344–348

    Article  CAS  PubMed  Google Scholar 

  • Pupavac M, Tian X, Chu J, Wang G, Feng Y, Chen S, Fenter R et al (2016) Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B metabolism. Mol Genet Metab 117:363–368

    Google Scholar 

  • Ruzzo EK, Capo-Chichi JM, Ben-Zeev B, Chitayat D, Mao H, Pappas AL, Hitomi Y et al (2013) Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy. Neuron 80:429–441

    Article  CAS  PubMed  Google Scholar 

  • Saudubray JM, Charpentier C (2001) Clinical phenotypes: diagnosis/algorithms. In: Scriver CR, Beaudet AL, Sly WS et al eds. The Metabolic & Molecular Bases of Inherited Disease, 8th ed. McGraw-Hill, New York, pp. 1327–1403

    Google Scholar 

  • Schimmenti LA, Crombez EA, Schwahn BC, Heese BA, Wood TC, Schroer RJ, Bentler K et al (2007) Expanded newborn screening identifies maternal primary carnitine deficiency. Mol Genet Metab 90:441–445

    Article  CAS  PubMed  Google Scholar 

  • Shaheen R, Rahbeeni Z, Alhashem A, Faqeih E, Zhao Q, Xiong Y, Almoisheer A et al (2014) Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH. Am J Hum Genet 94:898–904

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Stanley CA, Lieu YK, Hsu BY, Burlina AB, Greenberg CR, Hopwood NJ, Perlman K et al (1998) Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med 338:1352–1357

    Article  CAS  PubMed  Google Scholar 

  • Staretz-Chacham O, Lang TC, LaMarca ME, Krasnewich D, Sidransky E (2009) Lysosomal storage disorders in the newborn. Pediatrics 123:1191–1207

    Article  PubMed  PubMed Central  Google Scholar 

  • Swanson MA, Coughlin CR Jr, Scharer GH, Szerlong HJ, Bjoraker KJ, Spector EB, Creadon-Swindell G et al (2015) Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. Ann Neurol 78:606–618

    Article  CAS  PubMed  Google Scholar 

  • Tuchman M, Lee B, Lichter-Konecki U, Summar ML, Yudkoff M, Cederbaum SD, Kerr DS et al (2008) Cross-sectional multicenter study of patients with urea cycle disorders in the United States. Mol Genet Metab 94:397–402

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Valayannopoulos V, Verhoeven NM, Mention K, Salomons GS, Sommelet D, Gonzales M, Touati G et al (2006) Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease. J Pediatr 149:713–717

    Article  PubMed  Google Scholar 

  • Vallejo-Torres L, Castilla I, Couce ML, Perez-Cerda C, Martin-Hernandez E, Pineda M, Campistol J et al (2015) Cost-effectiveness analysis of a national newborn screening program for biotinidase deficiency. Pediatrics 136:e424–e432

    Article  PubMed  Google Scholar 

  • van de Kamp JM, Lefeber DJ, Ruijter GJ, Steggerda SJ, den Hollander NS, Willems SM, Matthijs G et al (2007) Congenital disorder of glycosylation type Ia presenting with hydrops fetalis. J Med Genet 44:277–280

    Article  PubMed  Google Scholar 

  • van der Crabben SN, Verhoeven-Duif NM, Brilstra EH, Van Maldergem L, Coskun T, Rubio-Gozalbo E, Berger R et al (2013) An update on serine deficiency disorders. J Inherit Metab Dis 36:613–619

    Article  CAS  PubMed  Google Scholar 

  • van der Knaap MS, Valk J (2005) Pattern recognition in white matter disorders. Springer, Berlin, pp 881–904

    Google Scholar 

  • Van Hove JL, Josefsberg S, Freehauf C, Thomas JA, le Thuy P, Barshop BA, Woontner M et al (2008) Management of a patient with holocarboxylase synthetase deficiency. Mol Genet Metab 95:201–205

    Article  PubMed  PubMed Central  Google Scholar 

  • van Karnebeek CD, Sly WS, Ross CJ, Salvarinova R, Yaplito-Lee J, Santra S, Shyr C et al (2014) Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood. Am J Hum Genet 94:453–461

    Article  PubMed  PubMed Central  Google Scholar 

  • Verhoeven NM, Wallot M, Huck JH, Dirsch O, Ballauf A, Neudorf U, Salomons GS et al (2005) A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency. J Inherit Metab Dis 28:169–179

    Article  CAS  PubMed  Google Scholar 

  • von Kleist-Retzow JC, Cormier-Daire V, Viot G, Goldenberg A, Mardach B, Amiel J, Saada P et al (2003) Antenatal manifestations of mitochondrial respiratory chain deficiency. J Pediatr 143:208–212

    Article  Google Scholar 

  • Wilcken B (2010) Fatty acid oxidation disorders: outcome and long-term prognosis. J Inherit Metab Dis 33:501–506

    Article  CAS  PubMed  Google Scholar 

  • Wilcken B, Carpenter KH, Hammond J (1993) Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency. Arch Dis Child 69:292–294

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Wilcken B, Haas M, Joy P, Wiley V, Chaplin M, Black C, Fletcher J et al (2007) Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study. Lancet 369:37–42

    Article  CAS  PubMed  Google Scholar 

  • Wraith JE (2002) Lysosomal disorders. Semin Neonatol 7:75–83

    Article  CAS  PubMed  Google Scholar 

  • Zytkovicz TH, Fitzgerald EF, Marsden D, Larson CA, Shih VE, Johnson DM, Strauss AW et al (2001) Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program. Clin Chem 47:1945–1955

    CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Department of Translational Medicine, Section of Pediatrics, Federico II University of Naples, Naples, Italy

    Nicola Brunetti-Pierri, Giancarlo Parenti & Generoso Andria

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  1. Nicola Brunetti-Pierri
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  2. Giancarlo Parenti
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  3. Generoso Andria
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Correspondence to Generoso Andria .

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  1. Siena, Italy

    Giuseppe Buonocore

  2. Medicina della Riproduzione, Università di Siena Dipto. Pediatria, Ostetricia e, Siena, Italy

    Rodolfo Bracci

  3. Liverpool Women's Hospital Neonatal Unit, Liverpool, United Kingdom

    Michael Weindling

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Brunetti-Pierri, N., Parenti, G., Andria, G. (2016). Inborn Errors of Metabolism and Newborns. In: Buonocore, G., Bracci, R., Weindling, M. (eds) Neonatology. Springer, Cham. https://doi.org/10.1007/978-3-319-18159-2_258-1

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  • DOI: https://doi.org/10.1007/978-3-319-18159-2_258-1

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