NEIMANN-PICK DISEASE

Question 1

It is caused by defective or insufficient amounts
of enzymes that are unable to break down lipids into smaller components to provide energy for the body

Answer 1

NEIMANN-PICK DISEASE

Question 2

a group of inherited metabolic disorders in which abnormal amounts of lipids build up in the brain, spleen, liver, lungs, and bone marrow

Answer 2

NIEMANN-PICK DISEASE

Question 3

What causes the types A and B Neimann-Pick Disease?

Answer 3

SMPD1

Question 4

• Decreased muscle tone
• Delay in developmental
  motor milestones

Answer 4

Early Infantile Onset

Question 5

• Clumsiness
• Learning difficulties
• Unsteady gait
• Difficulty swallowing
• Slurred speech
• Seizure & cataplexy

Answer 5

INFANTILE CHILDHOOD ONSET

Question 6

• Psychiatric symptoms
• Progressive cognitive
  impairment

Answer 6

TEENAGE & ADULT ONSENT

Question 7

• Common in newborns
• Rare in OL

Answer 7

JAUNDICE

Question 8

It is an iminosugar that acts as an inhibitor of glucosylceramide synthase, which is necessary in the early stages of glycosphingolipid synthesis

Answer 8

Miglustat or OGT 918 or N-butyl deoxy nojirimycin

Question 9

involves replacing the patient’s bone marrow cells with healthy donor cells, which can
produce normal enzymes and reduce the
accumulation of lipids in tissues

Answer 9

Bone Marrow Transplantation (BMT)

Question 10

Niemann-Pick disease is named after these 2 physician, who are these?

Answer 10

Albert Niemann
Ludwig Pick