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You see a 2-month-old in your office for a wellness visit. Her weight gain was 7 oz/week for the first 4 weeks, but it has decreased to 4 oz/week. Her parents report she is increasingly irritable, and her suck is “not as strong as it used to be.” Her bowel movements are less frequent and semiformed. Her abdominal girth has increased over her last visit. You note a high-pitched cry and generalized hypotonia and suspect galactosemia. What diagnostic testing is needed at this time? How will you manage this infant?
Please do not use Pubmed or StatPearls as scholarly sources. References must be within last 5 years. Thank you.
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