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Use of Gastrostomy Tube to Prevent Maternal PKU Syndrome

Jessica A Scott Schwoerer1, Lisa Obernolte, Sandra Van Calcar

  • 1Department of Pediatrics, University of Wisconsin - Madison, Madison, WI, USA, jscottschwoerer@pediatrics.wisc.edu.

JIMD Reports
|February 23, 2013
PubMed

Insights

Maternal Phenylketonuria Syndrome (MPKU) in infants is preventable with maternal metabolic control. Gastrostomy tubes can help mothers with Phenylketonuria (PKU) achieve necessary phenylalanine control, leading to healthy infant development.

Area of Science:

  • Biochemistry
  • Genetics
  • Maternal-Fetal Medicine

Background:

  • Maternal Phenylketonuria Syndrome (MPKU) results from poor metabolic control in pregnant women with Phenylketonuria (PKU).
  • Elevated phenylalanine (phe) levels during pregnancy act as a teratogen, causing severe fetal developmental issues like intellectual disability and congenital heart disease.
  • Achieving metabolic control by 8-10 weeks gestation is crucial for preventing MPKU, but dietary adherence can be challenging due to social, psychological, and educational factors.

Purpose of the Study:

  • To investigate the efficacy of gastrostomy tube placement in achieving metabolic control for pregnant women with PKU.
  • To evaluate infant outcomes in pregnancies where gastrostomy tubes were used to manage phenylalanine levels.

Main Methods:

  • Case study of two pregnancies involving women with PKU and poor metabolic control.
  • Gastrostomy tube placement was utilized to deliver medical formula when dietary interventions failed.
  • Monitoring of maternal phenylalanine levels and assessment of fetal development and infant outcomes.

Main Results:

  • Gastrostomy tube placement successfully reduced maternal phenylalanine concentrations to recommended levels in both cases.
  • Infant outcomes were normal, including healthy growth, appropriate head circumference, and normal heart structure.
  • The intervention demonstrated a viable strategy for managing difficult-to-control PKU during pregnancy.

Conclusions:

  • Gastrostomy tube placement is an effective intervention for achieving metabolic control in pregnant women with PKU who struggle with dietary adherence.
  • This method can lead to positive infant outcomes, mitigating the risks associated with Maternal Phenylketonuria Syndrome.
  • Addressing challenges in dietary management through alternative feeding methods like gastrostomy tubes is vital for successful pregnancy in women with PKU.

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