Skip to main content
SpringerLink
Log in

Pregnancy issues in inherited metabolic disorders

  • SSIEM SYMPOSIUM 2005
  • Published:
Journal of Inherited Metabolic Disease

Summary

Increasing numbers of individuals with inherited metabolic disorders are surviving into adulthood and considering their reproductive options. This paper discusses a practical approach to supporting such individuals, focusing on issues concerning fertility, the impact of pregnancy on metabolism and the metabolic disorder itself on the pregnancy, as well as highlighting the need to pay special attention during the postpartum period. Apart from pregnancies in women with phenylketonuria, there is a dearth of data in this area and a great need for collection of information within registries to aid our understanding of potential problems and counselling of women and their partners.

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

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Al-Shali K, Wang J, Fellows F, Huff MW, Wolfe BM, Hegele RA (2002) Successful pregnancy outcome in a patient with severe chylomicronemia due to compound heterozygosity for mutant lipoprotein lipase. Clin Biochem 35: 125– 130.

    Article  PubMed  Google Scholar 

  • Arn PH, Hauser ER, Thomas GH, Herman G, Hess D, Brusilow SW (1990) Hyperammonaemia in women with a mutation at the ornithine carbamoyltransferase locus. A cause of post partum coma. New Engl J Med 322: 1652– 1655.

    Article  PubMed  CAS  Google Scholar 

  • Bhat M, Haase C, Lee PJ (2005) Social outcome in treated individuals with inherited metabolic disorders: UK survey. J Inherit Metab Dis 28: 825– 830.

    Article  PubMed  CAS  Google Scholar 

  • Briones P, Giros M, Martinez V (2001) Second spontaneous pregnancy in a galactosaemic woman. J Inherit Metab Dis 24: 79– 80.

    Article  PubMed  CAS  Google Scholar 

  • Cerone R, Fantasia AR, Castellano E, et al (2002) Pregnancy and tyrosinaemia type II. J Inherit Metab Dis 25: 317– 318.

    Article  PubMed  CAS  Google Scholar 

  • Cordero DR, Baker J, Dorinzi D, Toffle R 2005 Ornithine transcarbamylase deficiency in pregnancy. J Inherit Metab Dis 28: 237– 240.3

    Article  PubMed  CAS  Google Scholar 

  • de Jongh S, Vreken P, Ijlst L, Wanders RJ, Jakobs C, Bakker HD (1999) Spontaneous pregnancy in a patient with classical galactosaemia. J Inherit Metab Dis 22: 754– 755.

    Article  PubMed  Google Scholar 

  • Deodata F, Rizzo C, Boenzi S, Baiocco F, Sabetta G, Dionisi-Vici C (2002) Successful pregnancy in a woman with mut-methylmalonic acidaemia. J Inherit Metab Dis 25: 133– 134.

    Article  Google Scholar 

  • Di Cianni G, Miccoli R, Volpe L, Lencioni C, Del Prato S (2003) Intermediate metabolism in normal pregnancy and in gestational diabetes. Diabetes Metab Res Rev 19: 259– 270.

    Article  PubMed  CAS  Google Scholar 

  • Ellaway CJ, Mundy H, Lee PJ (2001) Successful pregnancy outcome in atypical hyperglycinaemia. J Inherit Metab Dis 24: 599– 600.

    Article  PubMed  CAS  Google Scholar 

  • Elstein Y, Eisenberg V, Granovsky-Grisaru S, et al (2004) Pregnancies in Gaucher disease: a 5-year study. Am J Obstet Gynecol 190: 435– 441.

    Article  PubMed  Google Scholar 

  • Flodman P, Hodge SE (2003) Sex-specific mutation rates for X-linked disorders: estimation and application. Hum Hered 55: 51– 55.

    Article  PubMed  Google Scholar 

  • Furlan F, Menni F, Ghio L, et al (2005) Four year follow-up of combined liver— kidney transplantation in a female patient with glycogenosis type Ia. J Inherit Metab Dis 28(Supplement 1): 211.

    Google Scholar 

  • Grace J, El Toukhy T, Braude P (2004) Pre-implantation genetic testing. Br J Obstet Gynaecol 111: 1165– 1173.

    Google Scholar 

  • Grunewald S, Hinrichs F, Wendel U (1998) Pregnancy in a woman with maple syrup urine disease. J Inherit Metab Dis 21: 89– 94.

    Article  PubMed  CAS  Google Scholar 

  • Hendriksz CJ, Moss GM, Wraith JE (2004) Pregnancy in a patients with mucopolysaccharidosis type IH homozygous for the W402X mutation. J Inherit Metab Dis 27: 685– 686.

    Article  PubMed  CAS  Google Scholar 

  • Hendriksz CJ, Preece Ma, Chakrapani A (2005) Successful pregnancy in a treated patient with biotinidase deficiency. J Inherit Metab Dis 28: 791– 792.

    Article  PubMed  CAS  Google Scholar 

  • Ibdah JA, Dasouki MJ, Strauss AW (1999) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia. J Inherit Metab Dis 22: 811– 814.

    Article  PubMed  CAS  Google Scholar 

  • Kimonis V (2001) Increased fertility in a woman with classic galactosaemia. J Inherit Metab Dis 24: 607– 608.

    Article  PubMed  CAS  Google Scholar 

  • Koch R, Hanley W, Levy H, et al (2003) The Maternal Phenylketonuria International Study: 1984– 2002. Pediatrics 112: 1523– 1529.

    PubMed  Google Scholar 

  • Lee PJ (2002) Growing older: the adult metabolic clinic. J Inherit Metab Dis 25: 252– 260.

    Article  PubMed  CAS  Google Scholar 

  • Lee PJ, Patel A, Hindmarsh PC, Mowat AP, Leonard JV (1995) The prevalence of polycystic ovaries in the hepatic glycogen storage diseases: its association with hyperinsulinism. Clin Endocrinol 42: 601– 606.

    CAS  Google Scholar 

  • Lee PJ, Muiesan P, Heaton N (2004) Successful pregnancy after combined renal—hepatic transplantation in glycogen storage disease type Ia. J Inherit Metab Dis 27: 537–538.

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  • Levy HL, Vargas JE, Waisbren, et al (2002) Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency. J Inherit Metab Dis 25: 299–314.

    Article  PubMed  CAS  Google Scholar 

  • Levy HL, Yu JJ, Waisbren SE (2004) Maternal histidinaemia: pregnancies and offspring outcomes. J Inherit Metab Dis 27: 197–204.

    Article  PubMed  CAS  Google Scholar 

  • Mendoza A, Fisher NC, Duckett J, et al (1998) Successful pregnancy in a patient with type III glycogen storage disease managed with cornstarch supplements. Br J Obstet Gynaecol 105: 677–680.

    PubMed  CAS  Google Scholar 

  • Menezo, YJ, Lescaille M, Nicollet B, Servy EJ (2004) Pregnancy and delivery after stimulation with rFSH of a galactosaemic patient suffering hypergonadotrophic hypogonadism. J Assist Reprod Genet 21: 89–90.

    Article  PubMed  Google Scholar 

  • Mudd SH, Tangerman A, Stabler SP, et al (2003) Maternal methionine adenosyltransferase I/III deficiency: reproductive outcomes in a woman with four pregnancies. J Inherit Metab Dis 26: 443–458.

    Article  PubMed  CAS  Google Scholar 

  • Nelson J, Lewis B, Walters B (2000) The HELLP syndrome associated with fetal medium-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 23:518–519.

    Article  PubMed  CAS  Google Scholar 

  • Olson LJ, Reeder GS, Noller KL, Edwards W, Howell RR, Michels VV (1984) Cardiac involvement in glycogen storage disease III: morphologic and biochemical characterization with endomyocardial biopsy. Am J Cardiol 53: 980–981.

    Article  PubMed  CAS  Google Scholar 

  • Peterson DE (2003) Acute postpartum mental status change and coma caused by hyperammonaemia in previously undiagnosed ornithine transcarbamylase deficiency. Obstet Gynecol 102: 1212–1215.

    Article  PubMed  Google Scholar 

  • Preece MA, Green A (2002) Pregnancy and inherited metabolic disorders: maternal and fetal complications. Ann Clin Biochem 39: 444–455.

    Article  PubMed  CAS  Google Scholar 

  • Redonnet-Vernhet I, Rouanet F, et al (2000) A successful pregnancy in a heterozygote for OTC deficiency treated with sodium phenylbutyrate. Neurology 54:1008.

    PubMed  CAS  Google Scholar 

  • Ristoff E, Augustson C, Larsson A (1999) Generalized glutathione synthetase deficiency and pregnancy. J Inherit Metab Dis 22: 758–759.

    Article  PubMed  CAS  Google Scholar 

  • Spinty S, Rogozinski H, Lealman GT, Wraith JE (2002) Second case of a successful pregnancy in maternal isovaleric acidaemia. J Inherit Metab Dis 25:697–698.

    Article  PubMed  CAS  Google Scholar 

  • Sewell AC, Henrig J, Wiegratz I, et al (1998) Mitochondrial acetoacetylCoA thiolase (beta-ketothioase) deficiency and pregnancy. J Inherit Metab Dis 21:441–442.

    Article  PubMed  CAS  Google Scholar 

  • Van Calcar SC, Harding CO, Davidson SR, Barness LA, Wolff JA (1992) Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidaemia. Am J Med Genet 15: 641–646.

    Article  Google Scholar 

  • Vilaseca MA, Cuartero ML, Martinez de Salinas M, et al (2004) Two successful pregnancies in pyridoxine-nonresponsive homocystinuria. J Inherit Metab Dis 27: 775–777.

    Article  PubMed  CAS  Google Scholar 

  • Waggoner DD, Buist NR, Donnell GN (1990) Long-term prognosis in galactosaemia: results of a survey of 350 cases. J Inherit Metab Dis 13:802–818.

    Article  PubMed  CAS  Google Scholar 

  • Walter JH (2000) Inborn errors of metabolism and pregnancy. J Inherit Metab Dis 23: 229–236.

    Article  PubMed  CAS  Google Scholar 

  • Wasserstein MP, Gaddipati S, Snyderman SE, Eddleman K, Desnick RJ, Sansarieq C (1999) Successful pregnancy in severe methylmalonic acidaemia. J Inherit Metab Dis 22: 788–794.

    Article  PubMed  CAS  Google Scholar 

  • Wendt S, Whybra C, Kampmann C, Teichmann F, Beck M (2005) Successful pregnancy outcome in a patient with Fabry disease receiving enzyme replacement therapy with agalsidase alfa. J Inherit Metab Dis 28: 787–788.

    Article  PubMed  CAS  Google Scholar 

  • Worthington S, Christodoulou J, Wilcken B, Peat B (1996) Pregnancy and argininosuccinic aciduria. J Inherit Metab Dis 19: 621–623.

    Article  PubMed  CAS  Google Scholar 

  • Yoshida S, Tanaka K (2003) Postpartum death with maple syrup urine disease. Int J Obstet Gynaecol 81: 57–58.

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. The Charles Dent Metabolic Unit, The National Hospital for Neurology and Neurosurgery, Post Box 92, Queen Square, London, WC1N 3BG, UK

    Philip J. Lee

Authors
  1. Philip J. Lee
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Philip J. Lee.

Additional information

Communicating editor: Jean-Marie Saudubray

Competing interests: None declared

Rights and permissions

Reprints and permissions

About this article

Cite this article

Lee, P.J. Pregnancy issues in inherited metabolic disorders. J Inherit Metab Dis 29, 311–316 (2006). https://doi.org/10.1007/s10545-005-0252-1

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10545-005-0252-1

Keywords

Search

Navigation