Skip to main content
SpringerLink
Log in

Screening for Disorders of Tyrosine Metabolism

  • Conference paper
Neonatal Screening for Inborn Errors of Metabolism

Abstract

Screening for metabolic defects as a public health program should only be performed when the following premises are fulfilled:

  1. a)

    The disease in question has serious complications or consequences.

  2. b)

    It should have a reasonable incidence rate.

  3. c)

    The natural course should be well known.

  4. d)

    Treatment should be unquestionably effective with better results when the treatment is started early.

  5. e)

    Screening methods should be reliable with almost no false negatives and few false positives necessitating recalls.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 129.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 169.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  • Aim J, Larsson A (1979) A follow up of a nationwide neonatal metabolic screening program in Sweden. Pediatr Res 13:79

    Google Scholar 

  • Aronsson S, Engleson G, Jagenburg R, Palmgren B (1968) Long-term dietary treatment of tyrosinosis. J Pediatr 72:620–627

    Article  PubMed  CAS  Google Scholar 

  • Avery ME, Clow CL, Menkes, JH, Ramos A, Scriver CR, Stern L, Wasserman BP (1967) Transient tyrosinemia of the newborn: Dietary and clinical aspects. Pediatrics 39:378–384

    PubMed  CAS  Google Scholar 

  • Bodegaard G, Gentz J, Lindblad B, Lindstedt S, Zetterström R (1969) Hereditary tyrosinemia. III. On the differential diagnosis and the lack of effect of early dietary treatment. Acta Pediatr Scand 58:37–48

    Article  Google Scholar 

  • Bremer HJ, Tosberg P, Hönscher U (1966) Untersuchung über die Tyrosin-Stoffwechselstörung Frühgeborener. I. Veränderungen des Tyrosin-und Phenylalanin-spiegel im Blut Frühgeborener während der ersten Lebenswochen. Ann Paediatr 206:12–27

    PubMed  CAS  Google Scholar 

  • Buist NRM, Jhaveri BM (1973) A guide to screening newborn infants for inborn errors of metabolism. J Pediatr 82:511–522

    Article  PubMed  CAS  Google Scholar 

  • Buist NRM, Kennaway N, Burns RP (1973) Eye and skin lesions in tyrosinemia. Lancet 1:620–621

    Article  PubMed  CAS  Google Scholar 

  • Buist NRM, Fellman JH, Kennaway N (1978) Letter to the editor: Metabolic studies in tyrosinemia. Pediatr Res 12:56–57

    Article  PubMed  CAS  Google Scholar 

  • Burns RP (1972) Soluble tyrosine transaminase deficiency: An unusual cause of corneal ulcers. Am J Ophthalmol 73:400–402

    PubMed  CAS  Google Scholar 

  • Collaborative results of mass screening for inborn metabolic errors in eight European countries (1973). Acta Paediatr Scand 62:413–416

    Article  Google Scholar 

  • Collaborative study (1975) Frequency of inborn errors of metabolism, especially PKU, in some representative newborn screening centers around the world. Hum Genet 30:273–286

    Article  Google Scholar 

  • Fällström S-P, Lindblad B, Lindstedt S, Steen G (1979) Hereditary tyrosinemia — fumarylacetoacetase deficiency. Pediatr Res 13:78

    Article  Google Scholar 

  • Faull KF, Gan I, Halpern B, Hammond J, Im S, Cotton RGH, Danks DM, Freeman R (1977) Metabolic studies on two patients with nonhepatic tyrosinemia using deuterated tyrosine loads. Pediatr Res 11:631–637

    Article  PubMed  CAS  Google Scholar 

  • Fellman JH, Venbellinghen PJ, Jones RT, Koler RD (1969) Soluble and mitochondrial forms of tyrosine aminotransferase. Relationship to human tyrosinemia. Biochemistry 8:615–622

    Article  PubMed  CAS  Google Scholar 

  • Fernbach SA, Summons RE, Pereira WE, Duffield AM (1975) Metabolic studies of transient tyrosinemia in premature infants. Pediatr Res 9:172–176

    Article  PubMed  CAS  Google Scholar 

  • Gentz J, Johansson S, Lindblad B, Lindstedt S, Zetterström R (1969) Excretion of Δ-aminolevulinic acid in hereditary tyrosinemia. Clin Chim Acta 23:257–263

    Article  PubMed  CAS  Google Scholar 

  • Goldsmith LA, Kang E, Bienfang DC, Jimbow K, Gerald P, Baden HP (1973) Tyrosinemia with plantar and palmar keratosis and keratitis. J Pediatr 83:798–805

    Article  PubMed  CAS  Google Scholar 

  • Grenier A, Belanger L, Laberge C (1976) α1-fetoprotein measurement in blood spotted on paper: Discriminating test for hereditary tyrosinemia in neonatal mass screening. Clin Chem 22:1001–1004

    PubMed  CAS  Google Scholar 

  • Halvorsen S (1967) Dietary treatment of tyrosinosis. Am J Dis Child 113:38–40

    PubMed  CAS  Google Scholar 

  • Halvorsen S, Gjessing LR (1964) Studies on tyrosinosis. I. Effect of low-tyrosine and low-phenylalanine diet. Br Med J 2:1171–1173

    Article  PubMed  CAS  Google Scholar 

  • Halvorsen S, Gjessing LR (1971) Tyrosinosis. In: Bickel H, Hudson FP, Woolf LI (eds) Phenylketonuria and some other inborn errors of amino acid metabolism. Thieme, Stuttgart, pp 301–306

    Google Scholar 

  • Halvorsen S, Loken AC (1973) Effects of high tyrosine diets in immature mice. IRCS March 20-1-1

    Google Scholar 

  • Halvorsen S, Skjelkvale L (1973) Screening for tyrosinosis. N Eng J Med 289:695

    CAS  Google Scholar 

  • Hanhart E (1947) Neue Sonderformen von Keratosis palmo-plantaris, u.a. eine regelmässige-dominante mit systematisierten Lipomen ferner 2 einfachrezessive mit Schwachsinn und z.T. mit Hornhautveränderungen des Auges (Ektodermalsyndrom). Dermatologica 94:286–308

    Article  PubMed  CAS  Google Scholar 

  • Hill A, Zaleski WH (1971) Tyrosinosis: Biochemical studies of an unusual case. Clin Biochem 4:263–271

    Article  PubMed  CAS  Google Scholar 

  • Holston JL, Levy HL, Tomlin GA, Atkins RJ, Patton TH, Hosty TS (1971) Tyrosinosis: A patient without liver or renal disease. Pediatrics 48:391–400

    Google Scholar 

  • Kennaway N, Buist NRM (1971) Metabolic studies in a patient with hepatic cytosol tyrosine aminotransferase deficiency. Pediatr Res 5:287–297

    Article  Google Scholar 

  • La Du BN, Gjessing LR (1977) Tyrosinosis and tyrosinemia. In: Stanbury IB, Wyngaarden JB, Frederickson DS (eds). McGraw Hill, New York, pp 256–267

    Google Scholar 

  • Levy HL, Shih VE, Madigan PM, MacCready RA (1969) Transient tyrosinemia in full-term infants. JAMA 209:249–251

    Article  PubMed  CAS  Google Scholar 

  • Light IJ, Sutherland JM, Berry HK (1973) Clinical significance of tyrosinemia of prematurity. Am J Dis Child 125:243–247

    PubMed  CAS  Google Scholar 

  • Lindblad B, Lindstedt S, Steen G (1977) On the enzymatic defects in hereditary tyrosinemia. Proc Natl Acad Sci USA 74:4641–4645

    Article  PubMed  CAS  Google Scholar 

  • Martin HP, Fischer HL, Martin DS, Chase HP (1974) The development of children with transient neonatal tyrosinemia. J Pediatr 84:212–216

    Article  PubMed  CAS  Google Scholar 

  • Mathews J, Partington MW (1964) The plasma tyrosine levels of premature babies. Arch Dis Child 206:371–378

    Article  Google Scholar 

  • Menkes JH, Welcher DW, Levi HS, Dallas J, Gretsky NE (1972) Relationship of elevated blood tyrosine to the ultimate intellectual performance of premature infants. Pediatrics 49:218–224

    PubMed  CAS  Google Scholar 

  • Richner H (1938) Hornhautaffektion bei Keratoma palmare et plantare hereditarium. Klin Monatsbl Augenheilkd 100:580–586

    Google Scholar 

  • Sandberg HO (1975) Bilateral keratopathy and tyrosinosis. Acta Ophthalmol 53:760–764

    CAS  Google Scholar 

  • Schön R, Schmierer G (1972) Erhöhte Tyrosinblutspiegel bei Neugeborenen. Z Kinderheilkd 113:303–311

    Article  PubMed  Google Scholar 

  • Slördahl S, Lie SO, Jellum E, Stokke O (1979) Increased need for L-cysteine in hereditary tyrosinemia. Pediatr Res 13:74

    Article  Google Scholar 

  • Veale AMD, Lyon ICT, Houston IB (1971) Neonatal blood tyrosine elevations. NZ Med J 74:83–86

    CAS  Google Scholar 

  • Wadman SK, van Sprang FJ, Maas JW, Ketting D (1969) An exceptional case of tyrosinosis. J Ment Def Res 12:269–281

    Google Scholar 

  • Wong PWK, Lambert AM, Komrower GM (1967) Tyrosinemia and tyrosyluria in infancy. Dev Med Child Neurol 9:551–562

    Article  PubMed  CAS  Google Scholar 

  • Zaleski WA, Hill A (1975) Tyrosinosis: A new variant. Can Med Assoc J 108:477–484

    Google Scholar 

Download references

Authors
  1. S. Halvorsen
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Universitäts-Kinderklinik, Im Neuenheimer Feld 150, 6900, Heidelberg, Germany

    Horst Bickel  & Gerhard Hammersen  & 

  2. Department of Pediatrics, State University of New York at Buffalo, Childrens Hospital, Acheson Hall, Room 352, 3455 Main Street, Buffalo, N.Y., 14214, USA

    Robert Guthrie Ph.D., M.D. (Professor of Pediatrics and Microbiology) (Professor of Pediatrics and Microbiology)

Rights and permissions

Reprints and permissions

Copyright information

© 1980 Springer-Verlag Berlin Heidelberg

About this paper

Cite this paper

Halvorsen, S. (1980). Screening for Disorders of Tyrosine Metabolism. In: Bickel, H., Guthrie, R., Hammersen, G. (eds) Neonatal Screening for Inborn Errors of Metabolism. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-67488-4_5

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-67488-4_5

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-67490-7

  • Online ISBN: 978-3-642-67488-4

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation