Make a table of the following parameters of I-cell disease, Progeria, Refsum disease &

Parkinson’s disease.
1. Biochemical defect
2. Clinical feature that is most specific to that disease
3. Organelle involved

Clinical feature
Biochemical that is most Organelle
defect specific to that involved
disease
I-cell disease I-cell disease is a The symptoms Lysosome
genetically associated with this
inherited lysosomal disorder typically
storage disease that become obvious
is caused by a during infancy and
defective may include
phosphotransferase multiple
enzyme that is abnormalities of
located in the Golgi the skull and face
apparatus. and growth delays.
It also includes
skeletal
abnormalities and
mental
retardation.
Progeria It is caused by a Children with Nucleus
(Hutchinson- change (mutation) progeria generally
Gilford syndrome) in the LMNA gene appear normal at
that codes for the birth. During the
lamin A protein. first year, signs and
symptoms, such as
slow growth and
hair loss, begin to
appear. Heart
problems or
strokes are the
eventual cause of
death in most
children with
progeria.
Adult Refsum It is caused due to The disease usually Peroxisome
disease (ARD) genetic abnormality, begins in late
people with ARD childhood or early
disease lack the adulthood with
enzyme in increasing night
peroxisomes that blindness due to
break down
degeneration of
phytanic acid, a
the retina. If the
type of fat found in
certain foods. disease progresses,
other symptoms
may include
deafness, Loss of
the sense of smell
(anosmia),
problems with
balance and
coordination
(ataxia), dry and
scaly skin
(ichthyosis),
Heartbeat
abnormalities
(cardiac
arrhythmias)
Parkinson’s disease It is a It causes Mitochondria
neurodegenerative unintended or
disorder in which uncontrollable
certain nerve cells movements, such
(neurons) in the as shaking,
brain gradually stiffness, and
break down or die. difficulty with
balance and
coordination. As
the disease
progresses, people
may have difficulty
in walking and
talking.