Korean J Perinatol.  1999 Sep;10(3):387-390.

A Case of Maternal Phenyletonuria

• Hong HK
• Lee WR
• Lee DW

Abstract

Maternal phenylketonuria(PKU) is a disorder which appears when a pregnant woman with PKU doesn't take low phenylalanine diet, phenylalanine level of the fetus rises and interferes with fetal development and can easily result in abortion, low birth weight, microcephaly, cardiac anomaly or mental retardation. To prevent these effects of untreated maternal PKU, low phenylalanine diet should be taken to maintain the serum phenylalanine level less than 10mg/dl throughout the pregnancy. We experienced a case of maternal PKU in a female baby born to a 26-year-old woman with PKU who didn't take low phenylalanine diet until eighth moth of pregnancy. She showed intrauterine growth retardation, ventricular septal defect and patent ductus arteriosus. We report a case of maternal PKU with a brief review.

MeSH Terms

Adult
Diet
Ductus Arteriosus, Patent
Female
Fetal Development
Fetal Growth Retardation
Fetus
Heart Septal Defects, Ventricular
Humans
Infant, Low Birth Weight
Infant, Newborn
Intellectual Disability
Microcephaly
Moths
Phenylalanine
Pregnancy
Pregnant Women
Phenylalanine