Lipids/Lipid Storage

Question 1

Neonatal RDS

Answer 1

Respiratory Distress Syndrome. lack of lung surfactant (phospholipid shortage)

Primary: insufficient lung surfactant
Secondary: surfactant not working (edema, etc)

glucocorticoid injections to preg mother (after measuring L:S ratio) to stimulate surfactant production and lung maturation. can be caused by anorexic mother/malnutrition

Question 2

Zellweger

Answer 2

no peroxisome synthesis. as a result, plasmalogen synth comprised. early death

Question 3

Niemann Pick, A+B

Answer 3

sphingomyelinase deficiency. sphingomyelinase cleaves b/t Ceramide and Phosphocholine. hepatosplenomegaly. mental retardation

early death Type A (absolute def)

Type 2 (some sphingomyelinase activity)

Question 4

Krabbe

Answer 4

“bro, the Krabbe is out of this world”
galactosidase
galactocerebroside
glob of krab (globoid cells)

Question 5

Gaucher

Answer 5

(crying voice) “oh my Gauce, he’s such a sweet bro”
glucocerebrosidase
glucocerebroside

Question 6

Fabry (and Sandhoff)

Answer 6

“I fabricated a ceramic galaXy”
galactosidase
ceramide
X linked

Question 7

Tay Sachs (and GM1 Gangliosidosis)

Answer 7

"Sacked by a gang of 6 small redheaded Jews"
cherry red spot on Macula
hexoaminidase
GM2 ganglioside
small: NO hepatosplenomegaly