Monday, October 12, 2009

Genetics Consult

This week's theme is "von." Whatever that means.
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?

Image is shown under GNU Free Documentation License.

3 comments:

tree said...

Von Gierke's

Alex said...

von gierke?

Craig Chen said...

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.