Review Note
Last Update: 02/07/2024 05:29 AM
Current Deck: Biochemistry::Cell Biology
PublishedCurrently Published Content
Front
Which of the following is most consistent with I-cell disease?
Back
I-cell disease is caused by a defect of N-acetylglucosaminyl-1-phosphotransferase and is consistent with a normal urinalysis and increased serum lysosomal enzymes. The disorder is characterized by the failure of the Golgi to phosphorylate mannose residues, causing a build-up of cellular debris (inclusion bodies) in lysosomes.
Key Takeaway:
- I-cell disease classically presents with normal urinalysis.
- I-cell disease is caused by defective N-acetylglucosaminyl-1-phosphotransferase.
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