We had an infant patient with GM1 presentation included: regression, seizures, hepatomegaly, splenomegaly, coarsening of facial features, skeletal abnormality and cherry red spot.
Betagalactosidase was in normal limits but a reported Mutations in the GLB1 gene was confirmed. His parents were heterozygote for this gene.
What is your opinion?
Ahmad Sira
I think that betagalactosidase should be followed up, and if still within normal level, diagnosis is acceptable as long as the clinical picture is suggestive together with the detectable mutation.
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