I clel esdseai hieeโd
tirn alymssool gtrsaoe sodidrer mtao(ousal eevei;)csrs dcfete in lelsetyc1soyencgaotfhiar-aupsNpshm--olrna ;&-g-t ulferia of eth ogiGl ot pspyloahtheor naesmno rudsiees eae(rcdse ma-nshsepoto-pn6)eha on lietrysgnpooc ;g-t-& tsorย inep rea resetced acetlrelaulxyrl etahrr atnh vreidelde to oyesslmso
an1this is I-cell disease. we can tell because it's in a child (indicating AR as those occur in younger ages for the most part), he has recurrent infections, HSM (because the lipids, carbs, and proteins aren't broken down in the lysosome, they enter the blood and may deposit in the liver, spleen, heart, and bone resulting in enlargement), the presence of a NAG is right from FA. these proteins are not tagged with manose-6-phosphate and so don't go to the lysosome for degradation, lysosomal levels also increase in the blood. patients often present just like hurlers, + claw hand and kyphoscolosis. +
submitted by โmedninja(20)
I clel esdseai hieeโd tirn alymssool gtrsaoe sodidrer mtao(ousal eevei;)csrs dcfete in lelsetyc1soyencgaotfhiar-aupsNpshm--olrna ;&-g-t ulferia of eth ogiGl ot pspyloahtheor naesmno rudsiees eae(rcdse ma-nshsepoto-pn6)eha on lietrysgnpooc ;g-t-& tsorย inep rea resetced acetlrelaulxyrl etahrr atnh vreidelde to oyesslmso