The parents of a 2-week-old infant bring him to the emergency center in your local hospital for emesis and listlessness. Both of his parents wanted a natural birth, so he was born at home and has not yet been to see a physician. On examination, you find a dehydrated, listless, and irritable infant. Although you do not have a birth weight, the parents do not feel that he has gained much weight. He has significant jaundice. His abdominal examination is significant for both hepatomegaly and splenomegaly. Laboratory values include a total bilirubin of 15.8 mg/dL and a direct bilirubin of 5.5 mg/dL. His liver function tests are elevated and his serum glucose is 38 mg/dL. His admit urinalysis is negative for glucose but positive for Gram-negative rods; his urine and his blood ultimately grow E coll. Which of the following nutritional considerations should be considered in this child?
The patient has classic findings of galactosemia. Galactose is a component of lactose, found in breast milk and most infant formulas. Symptoms of galactosemia occur in the first weeks of life. While screening for classic galactosemia typically is part of the newborn metabolic panel, patients fitting the clinical presentation as outlined in the question must be evaluated promptly. Signs and symptoms in addition to those presented in the vignette include cataracts and ascites. While three different errors in galactose metabolism are known, most cases result from the deficiency in galactose-1-phosphate uridyl transferase. Urine-reducing substances can be positive, but a routine urinalysis will be negative, as the urine strips do not react with galactose. Patients are at increased risk for E coli sepsis, and this infection may precede the diagnosis of galactosemia. Prompt removal of galactose from the diet usually reverses the symptoms, including cataracts.Use of a phenylalanine-free diet would be appropriate for a patient with phenylketonuria (PKU), protein restriction and supplementation with citrulline might be used for treating ornithine transcarbamylase deficiency, a diet free from branched-chain amino acids would be appropriate for maple syrup urine disease, and part of the treatment for a patient with homocystinuria is high doses of vitamin B6 .
Administration of high doses of vitamin B6
Initial diet free of branched-chain amino acids
Lactose free formula
Protein restriction and supplementation with citrulline
Genetics And Genetic Disorders