Warning Signs And Progression Of Galactosemia

Galactosemia is a genetic disorder that occurs when the body has trouble processing galactose, a type of simple sugar. Many foods have small amounts of galactose. For the most part, it's a part of lactose, a more common sugar found in many baby formulas and all dairy products. The symptoms occur when the body cannot produce energy using galactose. There are multiple forms of galactosemia, and each is caused by one or more mutations in a certain gene.

Different enzymes may be affected, since several enzymes are responsible for breaking down galactose. Type I is the most commonly found and severe. Without prompt treatment, it leads to life-threatening complications in newborns in just a few days. Type II causes fewer medical issues than type I, though affected individuals do develop cataracts. Type III varies in symptom presentation from mild to severe.

Appetite Loss

Since galactosemia is a genetic condition, symptoms are present either from birth or shortly following birth. Appetite loss and problems feeding are some of the most common symptoms. It's sometimes difficult to identify loss of appetite in infants, since they don't have the communication skills to explain exactly what they're feeling. Irritation, coughing, and drooling often accompany a loss of appetite.

One of the symptoms doctors look for in young children is refraining from eating their favorite foods, but since infants have yet to develop favorite foods, difficulty or distress with breastfeeding or formula is a substitute. Though some infants may not show interest in feeding when they simply aren't hungry, consistent lack of interest in food or indigestion is cause for concern. This is especially true immediately following birth.

Vomiting

Excessive vomiting tends to set in after a few days or weeks, generally paired with a loss of appetite. Some parents may have difficulty differentiating between vomiting and spitting up. Spitting up is a normal behavior in infants and young children, and it tends to occur when a child burps after feeding. Medically, spitting up is called gastroesophageal reflux, and most infants exhibit it. Vomiting, however, is more forceful and tends to have large amounts. While a child may spit up a mouthful of milk or formula through their mouth or nose, vomiting involves the body forcefully contracting to expel as much of the stomach's contents as possible.