lipid storage disease 2 - samomcos

[ArchivalUser]

A 10 month old male baby dies, and on autopsy is found to have hepatomegaly with fatty infiltration, splenomegaly, and calcified adrenal cortices. He was ok after birth for about 3-4 months, after which he regressed neurologically, failed to thrive, became anemic and had steatorrhea. This rare AR lipid storage disease was caused by a deficiency of:
1. beta galactosidase
2. alpha iduronidase
3. acid lipase
4. arylsulfatase A

[ArchivalUser]

33...?

bcz other i never had abt adrenal calcifi

[ArchivalUser]

sry for spelling mistake,ie heard

[ArchivalUser]

ans-3 Wolman d.
thanks for the q

[ArchivalUser]

yup, never knew abt it either! it's rare, but the finding atleast give u a clue as to what the missing enzyme might be.