Name that deficiency
glucose 6-phosphatase
Increase in uric acid
hepatomegaly
renomegaly
von gierke
defect in the transporter for tryptophan and other nonpolar amino acids
rashes, ataxia, delayed mental development
hartnup disease
argininosuccinase deficiency
this is an enzyme in the urea cycle, this could increase the amount of nh4 in the body which could lead to brain damage.
Decrease in adenosine activity
Increase in inosine, SCIDs
a 1,4 glucosidase
a 1,6 glucosidase
cardiomegaly
hypertrophic cardiomyopathy
exercise intolerance
early death by two or three
pompe dz
Defective e3, build-up of proteins that were supposed to be degraded
early-on set parkinsons
carbamoyl phosphate/ ornithine transcarbamylase def.
too much nitrogen in cells, which then accumulates in glycine and glutamate.
Increase in uric acid
Gout
glycogen phosphorylase
painful muscle cramps
myoglobinuria
arrhythmia
a severe neurological disorder due to e3 ligase being under-expressed
happy disposition, absence of speech, hyperactivity
angelman syndrome
Absence of homogentisate oxidase
alcaptonuria. This is then excreted in urine which turns black when exposed to air.
Decrease in HGPRT
lesch-nyhan
debranching enzyme
cori
why is HPV linked to cervical cancers?
HPV will not allow ubiquitin to suppress tumor growth or DNA repair.
The branched-chain dehydrogenase is missing or defective, leading to increase in valine, isoleucine, or leucine.
maple syrup urine.
decrease in mother taking folic acid
spina bifida
branching enzyme
liver failure, early death
andersen
How can you treat tuberculosis
Oxiathiazol 2-one compounds, like HT1171 (suicide inhibitor)
Absence of phenylalanine hydroxylase
phenylketonuria.
What is one way to treat parkinsons
DOPA