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Use of Gastrostomy Tube to Prevent Maternal PKU Syndrome

  • Case Report
  • Chapter
  • First Online:
JIMD Reports - Case and Research Reports, 2012/3

Part of the book series: JIMD Reports ((JIMD,volume 6))

Abstract

Maternal Phenylketonuria Syndrome (MPKU) can occur in infants born to mothers with PKU with poor metabolic control during pregnancy. Elevated phenylalanine (phe) acts as a teratogen to the developing fetus with consequences including intellectual disability, microcephaly, facial dysmorphism, growth retardation, and congenital heart disease. MPKU can be prevented if metabolic control is achieved by 8–10 weeks gestation. If control is not achieved, there is a significant risk for MPKU. Therefore, in women with poor metabolic control at time of pregnancy, establishing metabolic control quickly is important.

Clinically, establishing metabolic control in women with PKU can present challenges. Social issues, psychological issues, and insufficient education about PKU play an important role in a patient’s inability to reinstitute this challenging diet. Maintaining phe levels within a range to allow for infant growth, while preventing toxicity, is challenging, particularly for those women who no longer follow the PKU diet. Gastrostomy tube placement is an option to deliver medical formula to women who are unable to restart diet due to severe nausea or palatability issues.

Here we discuss two pregnancies in which a gastrostomy tube was placed to achieve metabolic control after other measures failed to reduce phe concentrations into the recommended range. For these two pregnancies, placement of the gastrostomy tube led to improvement in phe levels with normal infant outcomes including normal growth, head circumference, and heart structure.

Competing interests: None declared

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Abbreviations

CHD:

Congenital heart disease

Gm:

Grams

Kcals:

Kilocalories

MPKU:

Maternal phenylketonuria syndrome

phe:

Phenylalanine

PKU:

Phenylketonuria

U.S:

United States

Kg:

Kilogram

cm:

centimeter

References

  • Allaert SE, Carlier SP, Weyne LP, Vertommen DJ, Dutre PE, Desmet MB (2007) First trimester anesthesia exposure and fetal outcome. A review. Acta Anaesthesiol Belg 58(2):119–123

    PubMed  CAS  Google Scholar 

  • Brown AS, Fernhoff PM, Waisbren SE et al (2002) Barriers to successful dietary control among pregnant women with phenylketonuria. Genet Med 4(2):84–89

    Article  PubMed  Google Scholar 

  • Cheek TG, Baird E (2009) Anesthesia for nonobstetric surgery: maternal and fetal considerations. Clin Obstet Gynecol 52(4):535–545

    Article  PubMed  Google Scholar 

  • Godil A, Chen YK (1998) Percutaneous endoscopic gastrostomy for nutrition support in pregnancy associated with hyperemesis gravidarum and anorexia nervosa. J Parenter Enteral Nutr 22(4):238–241

    Article  CAS  Google Scholar 

  • Irving PM, Howell RJ, Shidrawi RG (2004) Percutaneous endoscopic gastrostomy with a jejunal port for severe hyperemesis gravidarum. Eur J Gastroen Hepat 16(9):937–939

    Article  Google Scholar 

  • Koch R (2008) Maternal phenylketonuria and tetrahydrobiopterin. Pediatrics 122:1367

    Article  PubMed  Google Scholar 

  • Koch R, Levy HL, Matalon R, Rouse B, Hanely W, Azen C (1993) The North American collaborative study of maternal phenylketonuria. Am J Dis Child 147:1224–1230

    PubMed  CAS  Google Scholar 

  • Koch R, Hanley W, Levy HL et al (2000) Maternal pheylketonuria: an international study. Mol Genet Metab 71:233–239

    Article  PubMed  CAS  Google Scholar 

  • Koch R, Moseley K, Guttler F (2005) Tetrahydrobiopterin and maternal PKU. Mol Genet Metab 86:S139–S141

    Article  PubMed  CAS  Google Scholar 

  • Koh ML, Lipkin EW (1993) Nutrition support of a pregnant comatose patient via percutaneous endoscopic gastrostomy. J Parenter Enteral Nutr 17(4):384–387

    Article  CAS  Google Scholar 

  • Kuczkowski KM (2004) Nonobstetric surgery during pregnancy: what are the risks of anesthesia? Obstet Gynecol Surv 59(1):52–56

    Article  PubMed  Google Scholar 

  • Lee PJ, Lilburn M, Baudin J (2003) Maternal phenylketonuria: experiences from the United Kingdom. Pediatrics 112(6):1553–1556

    PubMed  Google Scholar 

  • Lee P, Treacy EP, Crombez E et al (2008) Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria. Am J Med Genet 146A:2851–2859

    Article  PubMed  CAS  Google Scholar 

  • Lenke RR, Levy HL (1980) Maternal phenylketonuria and hyperphenylalaninemia: an international survey of outcome of untreated and treated pregnancies. N Engl J Med 202(21):1202–1208

    Article  Google Scholar 

  • Levy HL (2003) Historical background for the maternal PKU syndrome. Pediatrics 112:1516–1518

    PubMed  Google Scholar 

  • Levy HL, Ghavami M (1996) Maternal phenylketonuria: a metabolic teratogen. Teratology 53:176–184

    Article  PubMed  CAS  Google Scholar 

  • Levy HL, Guldberg P, Guttler F et al (2001) Congenital heart disease in maternal phenylketonuria: report from the maternal PKU collaborative study. Pediatr Res 49(5):636–642

    Article  PubMed  CAS  Google Scholar 

  • MacDonald A, Rylance G, Hall SK, Asplin D, Booth IW (1996) Factors affecting the variation in plasma phenylalanine in patients with phenylketonuria on diet. Arch Dis Child 74:412–417

    Article  PubMed  CAS  Google Scholar 

  • Matalon KM, Acosta PB, Azen C (2003) Role of nutrition in pregnancy with phenylketonuria and birth defects. Pediatrics 112(6):1534–1536

    PubMed  Google Scholar 

  • Medical Advisory Panel of the National Society for Phenylketonuria (2004) Management of PKU. The National Society for Phenylketonuria (United Kingdom) Ltd.

    Google Scholar 

  • National Institutes of Health Consensus Development Panel (2001) National Institutes of Health Consensus Development conference statement; phenylketonuria: screening and management. Pediatrics 108(4):972–979

    Article  Google Scholar 

  • Pendlebury J, Phillips F, Ferguson A, Ghost S (1997) Successful pregnancy in a patient with chronic intestinal pseudo-obstruction while on ambulatory percutaneous endoscopic gastrostomy feeding. Eur J Gastroenterol Hepat 9(7):711–713

    Article  CAS  Google Scholar 

  • Pridjian G, Cunningham A, Tafti S, Andersson H (2008) PKU treatment with tetrahydrobiopterin (sapropterin) during pregnancy. The American Society of Human Genetics 58th annual meeting, Philadelphia, November 11–15, 2008

    Google Scholar 

  • Rashad MS, Ozand PT, Bucknall MP, Little D (1995) Diagnosis of inborn errors of metabolism from blood spots by acylcarnitine and amino acid profiling using automated electospray tandem mass spectrometry. Pediatr Res 38:324–331

    Article  Google Scholar 

  • Rouse B, Matalon R, Koch R et al (2000) Maternal phenylketonuria syndrome: congenital heart defects, microcephaly and developmental outcomes. Pediatrics 136(1):57–61

    Article  CAS  Google Scholar 

  • Saha S, Loranger D, Pricolo V, Degli-Esposti S (2009) Feeding jejunostomy for the treatment of severe hyperemesis gravidarum: a case series. J Parenter Enteral Nutr 33(5):529–534

    Article  Google Scholar 

  • Serrano P, Velloso A, García-Luna PP et al (1998) Enteral nutrition by percutaneous endoscopic gastrojejunostomy in severe hyperemesis gravidarum: a report of two cases. Clin Nutr 17(3):135–139

    Article  PubMed  CAS  Google Scholar 

  • Shaheen NJ, Crosby MA, Grimm IS, Isaacs K (1997) The use of percutaneous endoscopic gastrostomy in pregnancy. Gastrointest Endosco 46(6):564–565

    Article  CAS  Google Scholar 

  • Slocum RH, Cummings JG (1991) Amino acid analysis of physiological samples. In: Hommes FA (ed) Techniques in diagnostic human biochemical genetics: a laboratory manual. Wiley-Liss, New York, pp 87–126

    Google Scholar 

  • Trefz FK, Blau N (2003) Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria. Pediatrics 112(6):1566–1569

    PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pediatrics, University of Wisconsin – Madison, Madison, WI, USA

    Jessica A. Scott Schwoerer, Sandra Van Calcar & Gregory Rice

  2. Waisman Center, University of Wisconsin – Madison, 1500 Highland Ave. Rm 341, Madison, WI, 53705, USA

    Jessica A. Scott Schwoerer

  3. Waisman Center, University of Wisconsin – Madison, 1500 Highland Ave. Rm 349, Madison, WI, 53705, USA

    Lisa Obernolte

  4. Waisman Center, University of Wisconsin – Madison, 1500 Highland Ave. Rm 357, Madison, WI, 53705, USA

    Sandra Van Calcar

  5. Waisman Center, University of Wisconsin – Madison, 1500 Highland Ave. Rm 169, Madison, WI, 53705, USA

    Susan Heighway

  6. Department of Maternal Fetal Medicine, University of Wisconsin – Madison, Madison, WI, USA

    Heather Bankowski

  7. Biochemical Genetics Laboratory, Wisconsin State Lab of Hygiene, Madison, WI, USA

    Phillip Williams & Gregory Rice

  8. Waisman Center, University of Wisconsin – Madison, 1500 Highland Ave. Rm 337A, Madison, WI, 53705, USA

    Gregory Rice

Authors
  1. Jessica A. Scott Schwoerer
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  2. Lisa Obernolte
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  3. Sandra Van Calcar
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  4. Susan Heighway
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  5. Heather Bankowski
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  6. Phillip Williams
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  7. Gregory Rice
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Corresponding author

Correspondence to Jessica A. Scott Schwoerer .

Editor information

Editors and Affiliations

    Additional information

    Communicated by: John H Walter

    Appendices

    Synopsis Statement

    Gastrostomy tube placement in pregnant women with phenylketonuria is another option to control phenylalanine levels and prevent maternal PKU syndrome.

    Jessica Scott Schwoerer

    Conflict of Interest Questions

    1. 1.

      Have you in the past 5 years accepted the following from an organization that may in any way gain or lose financially from the result of your study or the conclusion of your review, editorial, or letter:

      1. a.

        Reimbursement for attending a symposium? – No

      2. b.

        A fee for specking or for organizing education? – No

      3. c.

        Funds for research or for a member of staff – No

      4. d.

        A fee for consulting? – No

    2. 2.

      Have you in the past five years been employed by an organization that may in any way gain or lose financially from the result of your study or the conclusion of your review, editorial, or letter? No. Do you hold any stocks or shares in such an organization? No

    3. 3.

      Have you acted as an expert witness on the subject of your study, review, editorial, or letter? No

    4. 4.

      Do you have any other competing financial interests? No

    Gregory Rice

    Conflict of Interest Questions

    1. 1.

      Have you in the past 5 years accepted the following from an organization that may in any way gain or lose financially from the result of your study or the conclusion of your review, editorial, or letter:

      1. a.

        Reimbursement for attending a symposium? – Yes, BioMarin Pharmaceuticals, Kuvan Advisory Meeting 2009. I do not believe that this publication will have any financial effect on the above but I am disclosing the relationship for completeness.

      2. b.

        A fee for specking or for organizing education? – Yes, BioMarin Pharmaceuticals, Kuvan Advisory Meeting 2010. I do not believe that this publication will have any financial effect on the above but I am disclosing the relationship for completeness.

      3. c.

        Funds for research or for a member of staff – Yes, we are involved in clinical trials sponsored by BioMarin Pharmaceuticals. I do not believe that this publication will have any financial effect on the above but I am disclosing the relationship for completeness.

      4. d.

        A fee for consulting? – No

    2. 2.

      Have you in the past 5 years been employed by an organization that may in any way gain or lose financially from the result of your study or the conclusion of your review, editorial, or letter? No. Do you hold any stocks or shares in such an organization? No

    3. 3.

      Have you acted as an expert witness on the subject of your study, review, editorial, or letter? No

    4. 4.

      Do you have any other competing financial interests? No

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    © 2012 SSIEM and Springer-Verlag Berlin Heidelberg

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    Schwoerer, J.A.S. et al. (2012). Use of Gastrostomy Tube to Prevent Maternal PKU Syndrome. In: JIMD Reports - Case and Research Reports, 2012/3. JIMD Reports, vol 6. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2011_95

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    • DOI: https://doi.org/10.1007/8904_2011_95

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    • Publisher Name: Springer, Berlin, Heidelberg

    • Print ISBN: 978-3-642-28128-0

    • Online ISBN: 978-3-642-28129-7

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