| Answer to PhotoQuiz 32 |
| Mucolipidosis Type II (I cell disease) (OMIM # 252500) |
| Mucolipidosis type II, also known as I cell disease, is an autosomal recessive lysosomal storage
disorder characterized by coarse facies, growth retardation, psychomotor retardation, skeletal
abnormalities and cardiomegaly. It is caused by a defect in the phosphorylation and intralysosmal
localization of lysosomal enzymes, which leads to very significant elevation of the levels of these
enzymes in the plasma. It results from homozygous or compound heterozygous mutations in the
GNPTAB gene on chromosome 12q23.2. |
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| Correct responses were given by: |
| 1. S. Beena, Chennai |
| 2. G. Aruna, Vellore |
| 3. Poonam Singh Gambhir, Lucknow |
| 4. Mohandas Nair, Kozhikode |
| 5. Sheetal Sharda, Surat |
| 6. Ashish Gupta, New Delhi |
| 7. Jai Prakash Soni, Jodhpur |
| 8. Jayaprakash KP, Kottayam |