Lysosome Flashcards
What enzyme pumps H+ Out of a lysosome ?
V-TYPE ATPase
Mucopolysaccharidoses disease ?
HURLER SYNDROME
HUNTER SYNDROME
Mucolipidoses diseases.?
I-CELL (2) (M6PTAG)
Pseudo Hurler
Sphongolipidoses?
TAY SACH
METACHROMATIC LEUKODYSTROPHY
Leukodystrophies ?
Chediak-higashi syndrome
Disease with
AR
CORNEAL CLOUDING
HEPATOSPLENOMEGALY
LESS GROWTH
DEATH IN 10 YEARS
DEFICIENCY OF ALPHA-L-IDURONIDASE
HURLER SYNDROME
DISEASE WITH
X-LINKED
DEF OF IDRUNATE SULFATASE
DERMATAN AND HEPARIN ACCUMULATION
HUNTER SYNDROME
MUCOPOLYSACCHARIDOSES
Disease with
AR
CHERRY RED MACULA
MUSCLE WEAKNESS
NEURO DEGENERATION
ACCUMULATION OF GM2 GANGLIOSIDE
TAY SACH
(SPINGOLIPIDOSES)
Disease with
AR
COGNITIVE DECLINE
PARALYSIS
MYELIN DEGENERATION
METACHROMATIC LEUKODYSTROPHIE
(SPINGOLIPIDOSES)
ARYL SULFATASE A DEFECT
Disease with
AR
ROUGH FACIAL FEATURE
RESTRICTED JOINT MOVEMENT
LIFE EXPECTANCY LESS THAN 10
DEF IN GOLGI-N-ACETYLGLUCOSAMINE (NAG)
I CELL
M6P TAG
(MUCOLIPIDOSES 2)
AR
Milder form of I CELL
LATE ONSET
PSEUDO HURLER