Term
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Definition
can cause SCID
excess ATP & dATP inh ribonucl reductase
preventing DNA synth & dn lymphos1st dz to be tx'd w. gene ther |
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Term
can cause SCID
excess ATP & dATP inh ribonucl reductase
preventing DNA synth & dn lymphos1st dz to be tx'd w. gene ther |
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Definition
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Term
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Definition
def of HGPRTase (hypoxanthine- IMP & GMP)
xlinked R
excess uric acidretard, self mutilating, aggr, hyperuric, gout, choreoathetosis |
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Term
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Definition
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Term
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Definition
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Term
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Definition
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Term
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Definition
| cloven part of proinsulin |
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Term
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Definition
up glu transport
up glycogenogenisis
up FA synth
up Na retn
up protein synth |
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Term
| cells that don’t need insulin |
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Definition
BRICKL:
brain, rbcs, intestine, cornea, kidney, liver |
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Term
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Definition
insulin dephos
glucagon phos's |
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Term
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Definition
g6phosphatase def
severe fasting hypogly, up hep glycogen, HM, up blood lactatetype 1 glycogen storage dz |
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Term
| severe fasting hypogly, up hep glycogen, HM, up blood lactate |
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Definition
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Term
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Definition
lysosomal a1-4 glucosidase def
cardiomegaly & systemic findings -> early deathtype 2 |
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Term
lysosomal a1-4 glucosidase def
cardiomegaly & systemic findings -> early death |
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Definition
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Term
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Definition
def of debranchin a1-6 glucosidase
milder version of von gierkes, nl blood lactype 3 |
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Term
def of debranchin a1-6 glucosidase
milder version of von gierkes, nl blood lac |
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Definition
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Term
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Definition
skel mm glycogen phosphorylase def
up glycogen in mm but cannot breakdn, cramps,myoglobinuria w. exertype 5 |
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Term
skel mm glycogen phosphorylase def
up glycogen in mm but cannot breakdn, cramps,myoglobinuria w. exer |
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Definition
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Term
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Definition
agalactosidase A def
accum ceramid trihexidose
XR |
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Term
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Definition
stocking/glove
angiokeratomas
CV/R dz |
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Term
agalactosidase A def
accum ceramid trihexidose
XR |
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Definition
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Term
stocking/glove
angiokeratomas
CV/R dz |
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Definition
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Term
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Definition
bglucocerebrosidase def
accum glucocerebroside
AR |
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Term
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Definition
HSM
aseptic necr of femur
bone crisis
gaucher cells = macs |
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Term
bglucocerebrosidase def
accum glucocerebroside
AR |
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Definition
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Term
HSM
aseptic necr of femur
bone crisis
macs |
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Definition
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Term
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Definition
sphingomyelinase def
accum sphingomyelin
AR |
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Term
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Definition
progr neurodegen
HSM, cherry red spots |
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Term
sphingomyelinase def
accum sphingomyelin
AR |
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Definition
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Term
progr neurodegen
HSM, cherry red spots |
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Definition
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Term
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Definition
hexosaminidase A def
accum GM2 ganglioside
AR |
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Term
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Definition
progr neurodegen
dev delay, cherry red spot, onion skin lysozymes |
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Term
hexosaminidase A def
accum GM2 ganglioside
AR |
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Definition
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Term
progr neurodegen
dev delay, cherry red spot, onion skin lysozymes |
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Definition
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Term
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Definition
b galactosidase def
accum galactocerebroside
AR |
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Term
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Definition
| periph neuropathy, dev delay, optic atrophy |
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Term
b galactosidase def
accum galactocerebroside
AR |
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Definition
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Term
| periph neuropathy, dev delay, optic atrophy |
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Definition
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Term
| metachromatic leukodystrophy |
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Definition
arylsulfatase A def
accum cerebroside sulfate
AR |
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Term
| metachromatic leukodystrophy ssx |
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Definition
| central & peripj demyl w. ataxia, dementia |
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Term
arylsulfatase A def
cerebroside sulfate
AR |
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Definition
| metachromatic leukodystrophy |
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Term
| central & peripj demyl w. ataxia, dementia |
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Definition
| metachromatic leukodystrophy ssx |
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Term
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Definition
a-l-iduronidase def
accum hep & dermatan sulfate
AR |
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Term
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Definition
| dev delay, gargoylsim, airway obstrn, corneal clouding, HSM |
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Term
a-l-iduronidase def
accum hep & dermatan sulfate
AR |
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Definition
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Term
| dev delay, gargoylsim, airway obstrn, corneal clouding, HSM |
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Definition
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Term
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Definition
iduronate sulfatase def
accum hep & dermatan sulfate
XR |
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Term
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Definition
| mild hurlers + aggr, no corneal clouding |
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Term
iduronate sulfatase def
accum hep & dermatan sulfate
XR |
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Definition
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Term
| mild hurlers + aggr, no corneal clouding |
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Definition
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Term
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Definition
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