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Question: Metabolic

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You are seeing a 10 day old infant born via midwife-assisted water birth at home, brought in for lethargy and vomiting. Physical exam is significant for lethargy, jaundice, and fever to 38.5. He is exclusively breastfeeding. Labs include pH 7.34, ammonia 80, point of care glucose 80, urine trace ketones.

What inborn error of metabolism do you suspect?
IDMetabolicNeonatal

pemsou5_wp • October 13, 2020


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  1. Kelly October 14, 2020 - 1:41 pm Reply

    D) GALT deficiency (galactosemia)
    Since the infant was born at home, no newborn screen was done. Galactosemia is an autosomal recessively inherited deficiency of galactose-1-phosphate uridyltransferase (GALT). Babies appear normal at birth, but when fed galactose-containing milk (breastmilk, cow’s milk formula), they develop jaundice, vomiting, lethargy, hepatosplenomegaly, failure to thrive, and eventually cataracts. Approximately 10% of babies with galactosemia will manifest sepsis, most commonly from E. Coli. Organic acidemias present with severe anion gap acidosis. Urea cycle disorders present with much higher ammonia levels. Fatty acid oxidation disorders present with hypoketotic hypoglycemia after a period of fasting. Mucopolysaccharidoses present with a slower progression of coarse facies, developmental regression, and visceromegaly; Hurler syndrome also manifests corneal clouding.

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