ER-Golgi transport

Question 1

Alpha-1 Antirypsin (A1AT) Def

Answer 1

A1AT def. inherited. most common cause of emphysema in adults, liver disease in children.
A1AT inhibits elastase, which prevents lung damage. excess elastase damages lungs. shortness of breath, gastro bleeding d/t severe liver damage

immunizations for flu/pneumonia, prevent for lung infections. no smoking. avoid pollution.
IV A1AT replacement, bronchodilators, liver transplant

Question 2

Inclusion Cell (I-Cell) Disease

Answer 2

golgi mistargetting. M6P LYSOSOME target signal missing. LSD (Lysosomal Storage Disease). def GluNAc-1-phosphotransferase, which makes M6P lysosomal target signal (missing)
craniofacial abnormalities. psychomotor retardation. UNLIKE DOWNs, regression of psychomotor dev.
Mucolipidosis. dense inclusion bodies
I-cell and pseudo-Hurler global lysosomal mistargetting (unlike most LSDs, single lysosomal mistargetting–asi Tay Sachs, Gaucher’s)

no treatment

Question 3

pseudo-Hurler polydystrophy

Answer 3

same as I-Cell, but less severe. resembles Hurler symptoms. inclusion bodies
lack of M6P target–>global lysosomal mistargetting

no treatment

Question 4

HurLer

Answer 4

L-Iduronidase def

Question 5

Gaucher

Answer 5

glucocereBROsidase def

Question 6

Niemann-Pick

Answer 6

sphingomyelinase def

Question 7

Tay Sachs

Answer 7

Hexoaminidase def.

Question 8

Krabbe

Answer 8

GALACTOcerebrosidase def. globoid leukodystrophy

Question 9

Hunter

Answer 9

Idonurate def

X linked

Question 10

Fabry

Answer 10

ceramide buildup. galacto def. X linked