You are on the genetics consult service (you're at a tertiary care hospital) and are asked to see a 6 month old infant with seizure. Physical exam shows a protruding abdomen and hepatomegaly. Laboratory tests show hypoglycemia, hyperlipidemia, and a lactic acidosis. The infant was born to a healthy G1P0 30 year old mother but since birth has had poor growth. The pattern of inheritance is shown above.Challenge: Given that this is "von" week, what's the diagnosis?
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3 comments:
Von Gierke's
von gierke?
impressive! i never remember the glycogen storage disorders
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Genetics Consult
This is von Gierke Disease or glycogen storage disease I, an autosomal recessive deficiency in glucose-6 phosphatase.
Sources: UpToDate; Wikipedia.
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