Problematic Pregnancies Part 5- Galactosemia Laurie A. Amell
Stein, Mitchell & Muse LLP has medical malpractice lawyers who have worked on galactosemia related cases in the Washington DC area. Galactosemia is an inherited disorder in which the body is unable to metabolize galactose, a type of sugar found in milk. People with galactosemia must avoid all forms of milk, human or animal, including products containing dry milk, and other foods with galactose for life. Infants can be fed with soy formula, meat-based formula, Nutramigen, or any other lactose-free formula. If fed milk, an infant with galactosemia will have substances made from galactose build up in their system. These toxic substances will damage the brain, liver, kidneys, and eyes, causing cataracts, cirrhosis of the liver, mental retardation, delayed speech development, tremors and uncontrollable motor functions, and many other serious injuries. This condition is not the same as being lactose intolerant; galactosemia is far more serious. Lactose intolerance will likely result in abdominal pain, whereas galactosemia can cause serious irreversible effects or even death.
Inborn errors of metabolism, also known as inherited metabolic disease and congenital metabolic disease, are defects of genes. Newborns must be tested without delay; otherwise, harmful, irreversible effects can occur within the newborn's first few days of life. Screening now tests for over one hundred disorders, including galactosemia. If there is a family history of galactosemia, the fetus should be tested in utero. Prenatal diagnosis is possible by directly measuring the enzyme galactose-1-phosphate uridyl transferase. Infants with galactosemia can develop signs and symptoms in the first few days of life if they are given formula or breast milk that contains lactose. These signs and symptoms include but are not limited to convulsions, irritability, lethargy, poor feeding, poor weight gain, jaundice, vomiting, amino acids in the urine and blood plasma, enlarged liver, fluid in the abdomen, or low blood sugar. When the health care provider fails to test (or a misdiagnosis occurs), toxic substances will begin accumulating in the infant's body putting the newborn's health at risk.
If you or a loved one suffered medical negligence or malpractice related to galactosemia or other diagnostic testing that your newborn should have received but did not receive, our experienced team can help. Contact our office today for a free consultation.
We hope you enjoyed this series by Laurie A. Amell, a nurse and an attorney who practices law in the Washington D.C., Virginia, and Maryland. Ms. Amell is a partner at Stein, Mitchell & Muse LLP, a Washington D.C. law firm conveniently located in D.C. across the street from the Mayflower Hotel at the Farragut North Metro station.
See part one, two, three and four. See the related birth injury series.



